OMIA:001081-9615 : Muscular dystrophy, Duchenne type in Canis lupus familiaris (dog)

In other species: Rhesus monkey , domestic cat , pig

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 310200 (trait) , 300377 (gene)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Mode of inheritance: X-linked recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 1992

Cross-species summary: Variants in the DMD gene may give rise to phenotypes with different severity. True null alleles cause the more severe Duchenne muscular dystrophy, while alleles with partial remaining protein function give rise to the milder Becker muscular dystrophy (OMIA:001888).

Species-specific name: X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy

Species-specific symbol: DD-MD

Species-specific description: Also known as Golden Retriever Muscular Dystrophy (GRMD), because this is the breed in which this disorder was first documented. This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT.
All known canine DMD variants that cause Duchenne or Becker like muscular dystrophy are listed in this entry.
This phene includes references to studies involving genetically modified organisms (GMO).

History: The first identified case of canine muscular dystrophy was in a Golden Retriever in 1958 (Shelton et al., 2004). The first causative mutation for this disorder in dogs, reported by Sharp et al., (1992, Genomics), was the result of cloning and sequencing a very likely comparative candidate gene (based on the same disorder in humans), namely the DMD gene.

Inheritance: Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).

Molecular basis: All causative mutations occur within the dystrophin gene, although the molecular basis of the dystrophin mutation may be different between breeds. In the Golden Retriever, there is a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene (omia.variant:366), such that exon 7 is skipped during mRNA processing. The amino acid frame shift causes premature termination of the dystrophin protein (Sharp et al., 1992; Bartlett at al., 1996; Howell et al., 1997). As reported by Kornegay et al. (2012), a causal "nonsense mutation in exon 58" (omia.variant:957) was reported in Rottweilers by Winand et al. (1994). In two affected German short-haired pointers, Schatzberg et al. (1999) discovered a "deletion encompassing the entire dystrophin [DMD] gene" (omia.variant:680). VanBelzen et al. (2017) provided a detailed characterisation of this deletion. In the Cavalier King Charles Spaniel, Walmsley et al. (2010) reported "a missense mutation in the 5′ donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein" (omia.variant:367). In Corgis, Smith et al. (2011) reported "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" as another causal mutation (omia.variant:708). As well as reviewing past discoveries, Kornegay et al. (2012) reported that they had "identified three additional DMD gene mutations in the Cocker spaniel (deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion, omia.variant:536), Tibetan terrier (a large deletion of exons 8-29, omia.variant:681), and Labrador retriever (184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion, omia.variant:729) (Larsen CA et al, unpublished). The Labrador retriever mutation presumably corresponds to one in an earlier [abstract] report (Smith et al 2007)". Atencia-Fernandez et al. (2015) reported the first causal inversion in a family of Japanese Spitz dogs: "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene" (omia.variant:750). Jenkins and Forman (2015) reported a 1bp deletion in exon 22 (chr CFAX: 27,606,021; CanFam3); c.3084delG; p.Gly1029AspfsX30 (GenBank:NM001003343, omia.variant:542) in a Norfolk Terrier. Nghiem et al. (2016) reported "a 7 base pair deletion in DMD exon 42 (c.6051-6057delTCTCAAT mRNA) (omia.variant:562) , predicting a frameshift in gene transcription and truncation of dystrophin protein translation" as the likely causal variant in a "dystrophin-deficient Cavalier King Charles Spaniel". Sánchez et al. (2018) reported "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" (omia.variant:989) as being a likely causal variant in three affected Miniature Poodles. Mata López et al. (2018) reported a "single nucleotide deletion in canine DMD exon 20, position 27,626,466 (c.2841delT mRNA, omia.variant:1235), resulting in a stop codon six nucleotides downstream" as being causal in a male Border Collie dog. Schrader et al. (2018) reported "a novel dystrophin mutation in exon 21 [omia.variant:1236] in a line of [affected] Australian Labradoodles". Barthélémy et al. (2020) reported "a 2.2-Mb inversion disrupting the DMD gene within intron 20 and involving the TMEM47 gene (omia.variant:1234) "as being causal of this disorder in a colony of Labrador Retrievers, whose disorder phenotype is very similar to that in Golden Retrievers. Brunetti et al. (2020) "identified a ~368kb deletion spanning 19 exons of the canine dystrophin (DMD) gene (omia.variant:1249). This pathogenic loss-of-function variant most likely explains the observed disease phenotype [in a "9-month old male Jack Russell Terrier"]" Shelton et al. (2022) showed that "the mild form of [muscular dystrophy] MD seen previously in a line of Labrador retrievers" (Vieira et al., 2015, Neuromuscul Disord 25:363-70) is due to "an approximately 400kb tandem genomic DNA duplication including exons 2-7 of the DMD gene (omia.variant:1492) that was inserted into intron 7 of the wild type gene. Skeletal muscle cDNA from 2 cases contained DMD transcripts as expected from an in-frame properly-spliced exon 2-7 tandem insertion". Shelton et al. (2023) "report the causative mutations for novel forms of X-linked muscular dystrophy in Brittany spaniels and in a French bulldog [omia.variant:1614-1616]." Clinical signs for the two Brittany spaniels were previously reported (Stevens et al. 2022). Van Poucke et al. (2024) "report the diagnosis and follow-up of mild dystrophin-deficient MD in a 5-month-old male Border Collie, associated with a novel DMD variant.  ...  Inspection of the Sashimi plots of the RNA-seq data from the affected muscle biopsy led to the discovery of a 162-bp L1 pseudoexon in DMD intron 63 [omia.variant:1714], introducing a frameshift and a premature stop codon (NM_001003343.1: c.9271_9272insN[162] p.(Ala3091fs*21))." Schwarz et al. (2024) "characterize the clinical, histopathological and molecular genetic aspects of two male Entlebucher Mountain Dogs with clinical signs of muscular dystrophy. ... Whole genome sequencing of one affected dog identified an intragenic 8.6 kb duplication in the X-chromosomal DMD gene, c.7528-4048_7645 + 4450dup [omia.variant:1744]. ... The duplication includes exon 52 of DMD and is predicted to lead to a frameshift and truncation of 30% of the wild-type open reading frame. Genotyping of the whole family confirmed the presence of the mutant allele in both affected dogs and the unaffected dam."

Genetic engineering: Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).

Pathology: Clinical signs are caused by the absence of dystrophin protein. Affected animals initially have sarcolemma dysfunction, which results in an increased intracellular calcium and muscle fiber hypercontraction. These are followed by muscle fiber degeneration and necrosis, with some regeneration (Howell et al., 1997). Eventually, muscle fibrosis, mineralization and fat infiltration occur in both skeletal and cardiac muscle. Lesions in cardiac muscle, which are analogous but can be less severe, are usually in the ventricles, and usually occur after 6 months of age (Howell et al., 1997).

Control: Female relatives of affected dogs should be tested to identify carriers. Breeding of affected or carrier animals should be avoided.

Breeds: Australian Labradoodle (Dog) (VBO_0200092), Border Collie (Dog) (VBO_0200193), Brittany Spaniel (Dog) (VBO_0200239), Cavalier King Charles Spaniel (Dog) (VBO_0200309), Entlebucher Mountain Dog (Dog) (VBO_0200503), German Shorthaired Pointer (Dog) (VBO_0200583), Golden Retriever (Dog) (VBO_0200610), Grand Basset Griffon Vendeen (Dog) (VBO_0200615), Irish Terrier (Dog) (VBO_0200704), Jack Russell Terrier (Dog) (VBO_0200724), Japanese Spitz (Dog) (VBO_0200740), Labrador Retriever (Dog) (VBO_0200800), Miniature Schnauzer (Dog) (VBO_0200896), Pembroke Welsh Corgi (Dog) (VBO_0200995), Rat Terrier (Dog) (VBO_0201125), Rottweiler (Dog) (VBO_0201143), Samoyed (Dog) (VBO_0201174), Tibetan Terrier (Dog) (VBO_0201353), Weimaraner (Dog) (VBO_0201401).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMD dystrophin Canis lupus familiaris X NC_051843.1 (28487633..26319830) DMD Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
680 German Shorthaired Pointer (Dog) Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant X a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
989 Poodle, Miniature (Dog) Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant X "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" 2018 29474464
957 Rottweiler (Dog) Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant X "nonsense mutation in exon 58" 1994 Reference not in PubMed; see OMIA 001081-9615 for reference details
729 Labrador Retriever (Dog) Muscular dystrophy, Duchenne type DMD insertion, gross (>20) Naturally occurring variant X "184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion" 2012 22218699 Reference not in PubMed; see OMIA 001081-9615 for reference details
536 Cocker Spaniel (Dog) Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant X deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion 2012 22218699
681 Tibetan Terrier (Dog) Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant X "a large deletion of exons 8-29" 2012 22218699
367 Cavalier King Charles Spaniel (Dog) Muscular dystrophy, Duchenne type DMD splicing Naturally occurring variant CanFam3.1 X g.26956239G>A c.7294+5G>T NM_001003343.1; NP_001003343.1; experimentally confirmed splice defect; a single nucleotide variant in the 5'-splice site of intron 51 that results in skipping of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein 2010 20072625
562 Cavalier King Charles Spaniel (Dog) Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant CanFam3.1 X g.27442996_27443002del c.6057_6063del p.(N2021Pfs) NM_001003343.1; NP_001003343.1; published as c.6051_6057delTCTCAAT based on different transcript 2016 28028563
542 Norfolk Terrier (Dog) Muscular dystrophy, Duchenne type DMD deletion, small (<=20) Naturally occurring variant CanFam3.1 X g.27606021del c.3084delG p.(G1029Nfs*30) 2015 26401335
1249 Jack Russell Terrier (Dog) Duchenne-type muscular dystrophy DMD deletion, gross (>20) Naturally occurring variant CanFam3.1 X g.27615280_27982912del c.94-10346_2807-6207del XM_005641029.1 2020 33049940
1236 Australian Labradoodle (Dog) Australian Labradoodle dystrophinopathy DMD nonsense (stop-gain) Naturally occurring variant CanFam3.1 X g.27621845G>A c.2668C>T p.(R890*) NM_001003343.1; NP_001003343.1; "a C to T transition at base pair 43 in exon 21 of the dystrophin gene" (Shrader et al., 2018) 2018 30286978
1234 Labrador Retriever (Dog) Labrador Retriever muscular dystrophy (LRMD) DMD inversion Naturally occurring variant CanFam3.1 X g.27622834_29823788inv c.-1490357_2626-947inv XM_005641029.1 2020 32767978
1235 Border Collie (Dog) Muscular dystrophy, Duchenne DMD deletion, small (<=20) Naturally occurring variant CanFam3.1 X g.27626466del c.2841delT 2018 29843823
750 Japanese Spitz (Dog) Muscular dystrophy, Duchenne type DMD inversion Naturally occurring variant CanFam3.1 X g.27631972_33069482inv c.-4736051_2384-5339inv XM_005641029.1; "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene". 2015 25644216
708 Pembroke Welsh Corgi (Dog) Muscular dystrophy, Duchenne type DMD insertion, gross (>20) Naturally occurring variant CanFam3.1 X g.27721607_27721608insN[(4800)] "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" 2011 20714321
1492 Labrador Retriever (Dog) Muscular dystrophy, Duchenne type DMD duplication Naturally occurring variant CanFam3.1 X g.27851768_28247504dup Shelton et al. (2022): "chrX:27,851,768-27,852,122 bp position (Intron 7 . . .) and chrX:28,247,150-28,247,504 bp position (Intron 1 . . .)" 2022 36041985
366 Golden Retriever (Dog) Muscular dystrophy, Duchenne type DMD splicing Naturally occurring variant CanFam3.1 X g.27926946T>C c.531-2A>G NM_001003343.1; a point mutation in the consensus splice acceptor site in exon 6 , such that exon 7 is skipped rs1152388423 1992 1577476
1714 Border Collie (Dog) Muscular dystrophy, X-linked DMD insertion, gross (>20) Naturally occurring variant ROS_Cfam_1.0 X NC_051843.1:g.26431863_26431864insN[162] NM_001003343.1:c.9271_9272insN[162] NP_001003343.1:p.(Ala3091fs*21) likely de-novo variant present in a single affected dog 2024 39152696
1615 Brittany Spaniel (Dog) Muscular dystrophy, Duchenne DMD insertion, gross (>20) Naturally occurring variant UU_Cfam_GSD_1.0 X RSPYR1 retrogene insertion in intron 20; reported in a single dog; reported in a single dog 2023 37628610
1614 Brittany Spaniel (Dog) Muscular dystrophy, Duchenne DMD nonsense (stop-gain) Naturally occurring variant UU_Cfam_GSD_1.0 X g.26939052G>A c.8059C>T p.(Q2687*) NM_001003343.1; NP_001003343.1; reported in 2 related dogs 2023 37628610
1616 French Bulldog (Dog) Muscular dystrophy, Duchenne DMD insertion, small (<=20) Naturally occurring variant UU_Cfam_GSD_1.0 X g.27774668_27774669insT c.3371_3372insA p.(F1125fs) NM_001003343.1; NP_001003343.1; published as p.(F1125*), reported in a single dog 2023 37628610
1744 Entlebucher Mountain Dog (Dog) Muscular dystrophy, Duchenne type DMD duplication Naturally occurring variant UU_Cfam_GSD_1.0 X NC_049260.1:g.27027497_27,036112dup8616 NM_001003343.1:c.7528-4048_7645+4450dup NP_001003343.1:p.(I2549Sfs*3) 2024 39307576

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001081-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Barthélémy, I., Su, J.B., Cauchois, X., Relaix, F., Ghaleh, B., Blot, S. :
Ambulatory electrocardiographic longitudinal monitoring in a canine model for Duchenne muscular dystrophy identifies decreased very low frequency power as a hallmark of impaired heart rate variability. Sci Rep 14:8969, 2024. Pubmed reference: 38637619. DOI: 10.1038/s41598-024-59196-z.
Boehler, J.F., Brown, K.J., Ricotti, V., Morris, C.A. :
N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy. Skelet Muscle 14:2, 2024. Pubmed reference: 38229112. DOI: 10.1186/s13395-023-00334-y.
Caldas de Almeida Araujo, E., Barthélémy, I., Fromes, Y., Baudin, P.Y., Blot, S., Reyngoudt, H., Marty, B. :
Comprehensive quantitative magnetic resonance imaging assessment of skeletal muscle pathophysiology in golden retriever muscular dystrophy: Insights from multicomponent water T2 and extracellular volume fraction. NMR Biomed 38:e5278, 2024. Pubmed reference: 39434514. DOI: 10.1002/nbm.5278.
Kodippili, K., Hakim, C.H., Burke, M.J., Yue, Y., Teixeira, J.A., Zhang, K., Yao, G., Babu, G.J., Herzog, R.W., Duan, D. :
SERCA2a overexpression improves muscle function in a canine Duchenne muscular dystrophy model. Mol Ther Methods Clin Dev 32:101268, 2024. Pubmed reference: 38911286. DOI: 10.1016/j.omtm.2024.101268.
Morales, E.D., Wang, D., Burke, M.J., Han, J., Devine, D.D., Zhang, K., Duan, D. :
Transcriptional changes of genes encoding sarcoplasmic reticulum calcium binding and up-taking proteins in normal and Duchenne muscular dystrophy dogs. BMC Musculoskelet Disord 25:811, 2024. Pubmed reference: 39402529. DOI: 10.1186/s12891-024-07927-8.
Riddell, D.O., Hildyard, J.C.W., Harron, R.C.M., Wells, D.J., Piercy, R.J. :
Identification of reference microRNAs in skeletal muscle of a canine model of Duchenne muscular dystrophy. Wellcome Open Res 9:362, 2024. Pubmed reference: 39649621. DOI: 10.12688/wellcomeopenres.22481.2.
Schwarz, C., Jagannathan, V., Schelling, C., Leeb, T. :
Intragenic dystrophin (DMD) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy. Anim Genet 55:849-853, 2024. Pubmed reference: 39307576. DOI: 10.1111/age.13475.
Souidi, M., Resta, J., Dridi, H., Sleiman, Y., Reiken, S., Formoso, K., Colombani, S., Amédro, P., Meyer, P., Charrabi, A., Vincenti, M., Liu, Y., Soni, R.K., Lezoualc'h, F., Stéphane Blot, D.V.M., Rivier, F., Cazorla, O., Parini, A., Marks, A.R., Mialet-Perez, J., Lacampagne, A., Meli, A.C. :
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy. J Cachexia Sarcopenia Muscle 15:536-551, 2024. Pubmed reference: 38221511. DOI: 10.1002/jcsm.13411.
Van Poucke, M., Ledeganck, L., Guo, L.T., Shelton, G.D., Bhatti, S.F.M., Cornelis, I., Peelman, L. :
Exonisation of an intronic L1 element in the dystrophin gene associated with X-linked muscular dystrophy in a Border Collie dog. Anim Genet 55:733-743, 2024. Pubmed reference: 39152696. DOI: 10.1111/age.13470.
2023 Birch, S.M., Lawlor, M.W., Conlon, T.J., Guo, L.J., Crudele, J.M., Hawkins, E.C., Nghiem, P.P., Ahn, M., Meng, H., Beatka, M.J., Fickau, B.A., Prieto, J.C., Styner, M.A., Struharik, M.J., Shanks, C., Brown, K.J., Golebiowski, D., Bettis, A.K., Balog-Alvarez, C.J., Clement, N., Coleman, K.E., Corti, M., Pan, X., Hauschka, S.D., Gonzalez, J.P., Morris, C.A., Schneider, J.S., Duan, D., Chamberlain, J.S., Byrne, B.J., Kornegay, J.N. :
Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy. Sci Transl Med 15:eabo1815, 2023. Pubmed reference: 36599002. DOI: 10.1126/scitranslmed.abo1815.
Cardoso, D., Barthélémy, I., Blot, S., Muchir, A. :
Replenishing NAD+ content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy. Skelet Muscle 13:20, 2023. Pubmed reference: 38044436. DOI: 10.1186/s13395-023-00328-w.
Crawford, A.H., Hornby, N.L., de la Fuente, A.G., Piercy, R.J. :
Brain magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophy reveals regional reductions in cerebral gray matter. BMC Neurosci 24:21, 2023. Pubmed reference: 36932329. DOI: 10.1186/s12868-023-00788-2.
Ghaleh, B., Barthélemy, I., Sambin, L., Bizé, A., Corboz, D., Hittinger, L., Blot, S., Su, J.B. :
Spatial and temporal non-uniform changes in left ventricular myocardial strain in dogs with Duchenne muscular dystrophy. J Cardiovasc Dev Dis 10:217, 2023. Pubmed reference: 37233184. DOI: 10.3390/jcdd10050217.
Gorji, A.E., Ostaszewski, P., Urbańska, K., Sadkowski, T. :
Does β-hydroxy-β-methylbutyrate have any potential to support the treatment of Duchenne muscular dystrophy in humans and animals? Biomedicines 11:2329, 2023. Pubmed reference: 37626825. DOI: 10.3390/biomedicines11082329.
Hakim, C.H., Pérez-López, D., Burke, M.J., Teixeira, J., Duan, D. :
Molecular and biochemical assessment of gene therapy in the canine model of Duchenne muscular dystrophy. Methods Mol Biol 2587:255-301, 2023. Pubmed reference: 36401035. DOI: 10.1007/978-1-0716-2772-3_15.
Hakim, C.H., Teixeira, J., Leach, S.B., Duan, D. :
Physiological assessment of muscle, heart, and whole body function in the canine model of Duchenne muscular dystrophy. Methods Mol Biol 2587:67-103, 2023. Pubmed reference: 36401025. DOI: 10.1007/978-1-0716-2772-3_5.
Lenoir, K.N., Bryan, L.K., Gremillion, C.L. :
Chronic, progressive, intermittent vomiting and regurgitation, hypersalivation, inappetence, and weight loss in a 5-year-old neutered male German Shepherd Dog. J Am Vet Med Assoc 261:1-3, 2023. Pubmed reference: 37085148. DOI: 10.2460/javma.23.03.0140.
Riddell, D.O., Hildyard, J.C.W., Harron, R.C.M., Taylor-Brown, F., Kornegay, J.N., Wells, D.J., Piercy, R.J. :
Longitudinal assessment of skeletal muscle functional mechanics in the DE50-MD dog model of Duchenne Muscular Dystrophy. Dis Model Mech 16:dmm050395, 2023. Pubmed reference: 38050706. DOI: 10.1242/dmm.050395.
Russell, A.J., DuVall, M., Barthel, B., Qian, Y., Peter, A.K., Newell-Stamper, B.L., Hunt, K., Lehman, S., Madden, M., Schlachter, S., Robertson, B., Van Deusen, A., Rodriguez, H.M., Vera, C., Su, Y., Claflin, D.R., Brooks, S.V., Nghiem, P., Rutledge, A., Juehne, T.I., Yu, J., Barton, E.R., Luo, Y.E., Patsalos, A., Nagy, L., Sweeney, H.L., Leinwand, L.A., Koch, K. :
Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy. J Clin Invest 133:e153837, 2023. Pubmed reference: 36995778. DOI: 10.1172/JCI153837.
Shelton, G.D., Minor, K.M., Friedenberg, S.G., Cullen, J.N., Guo, L.T., Mickelson, J.R. :
Current classification of canine muscular dystrophies and identification of new variants. Genes (Basel) 14:1557, 2023. Pubmed reference: 37628610. DOI: 10.3390/genes14081557.
2022 Bengtsson, N.E., Crudele, J.M., Klaiman, J.M., Halbert, C.L., Hauschka, S.D., Chamberlain, J.S. :
Comparison of dystrophin expression following gene editing and gene replacement in an aged preclinical DMD animal model. Mol Ther 30:2176-2185, 2022. Pubmed reference: 35143959. DOI: 10.1016/j.ymthe.2022.02.003.
Crawford, A.H., Hildyard, J.C.W., Rushing, S.A.M., Wells, D.J., Diez-Leon, M., Piercy, R.J. :
Validation of DE50-MD dogs as a model for the brain phenotype of Duchenne muscular dystrophy. Dis Model Mech 15:dmm049291, 2022. Pubmed reference: 35019137. DOI: 10.1242/dmm.049291.
Hildyard, J.C.W., Riddell, D.O., Harron, R.C.M., Rawson, F., Foster, E.M.A., Massey, C., Taylor-Brown, F., Wells, D.J., Piercy, R.J. :
The skeletal muscle phenotype of the DE50-MD dog model of Duchenne muscular dystrophy. Wellcome Open Res 7:238, 2022. Pubmed reference: 36865375. DOI: 10.12688/wellcomeopenres.18251.1.
Riddell, D.O., Hildyard, J.C.W., Harron, R.C.M., Wells, D.J., Piercy, R.J. :
Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy. Wellcome Open Res 6:354, 2022. Pubmed reference: 35600245. DOI: 10.12688/wellcomeopenres.17398.2.
Riddell, D.O., Hildyard, J.C.W., Harron, R.C.M., Hornby, N.L., Wells, D.J., Piercy, R.J. :
Serum inflammatory cytokines as disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy. Dis Model Mech 15:dmm049394, 2022. Pubmed reference: 36444978. DOI: 10.1242/dmm.049394.
Shelton, G.D., Minor, K.M., Vieira, N.M., Kunkel, L.M., Friedenberg, S.G., Cullen, J.N., Guo, L.T., Zatz, M., Mickelson, J.R. :
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype. Neuromuscul Disord 32:836-841, 2022. Pubmed reference: 36041985. DOI: 10.1016/j.nmd.2022.08.001.
Stevens, R., Kanazono, S., Petesch, S., Guo, L.T., Shelton, G.D. :
Dystrophin-deficient muscular dystrophy in two male juvenile Brittanys. J Am Anim Hosp Assoc 58:292-296, 2022. Pubmed reference: 36315862. DOI: 10.5326/JAAHA-MS-7255.
2021 Crawford, A.H., Hildyard, J.C.W., Wells, D.J., Piercy, R.J. :
Identification of quantitative polymerase chain reaction reference genes suitable for normalising gene expression in the brain of normal and dystrophic mice and dogs. Wellcome Open Res 6:84, 2021. Pubmed reference: 37942409. DOI: 10.12688/wellcomeopenres.16707.2.
Gaina, G., Popa Gruianu, A. :
Muscular dystrophy: Experimental animal models and therapeutic approaches (Review). Exp Ther Med 21:610, 2021. Pubmed reference: 33936267. DOI: 10.3892/etm.2021.10042.
Hakim, C.H., Yang, H.T., Burke, M.J., Teixeira, J., Jenkins, G.J., Yang, N.N., Yao, G., Duan, D. :
Extensor carpi ulnaris muscle shows unexpected slow-to-fast fiber-type switch in Duchenne muscular dystrophy dogs. Dis Model Mech 14:dmm049006, 2021. Pubmed reference: 34704592. DOI: 10.1242/dmm.049006.
Kupatt, C., Windisch, A., Moretti, A., Wolf, E., Wurst, W., Walter, M.C. :
Genome editing for Duchenne muscular dystrophy: a glimpse of the future? Gene Ther 28:542-8, 2021. Pubmed reference: 33531685. DOI: 10.1038/s41434-021-00222-4.
Kuraoka, M., Aoki, Y., Takeda, S. :
Development of outcome measures according to dystrophic phenotypes in canine X-linked muscular dystrophy in Japan. Exp Anim 70:419-430, 2021. Pubmed reference: 34135266. DOI: 10.1538/expanim.21-0072.
Maynard, L.H., Humbert, O., Peterson, C.W., Kiem, H.P. :
Genome editing in large animal models. Mol Ther 29:3140-3152, 2021. Pubmed reference: 34601132. DOI: 10.1016/j.ymthe.2021.09.026.
Nitahara-Kasahara, Y., Kuraoka, M., Guillermo, P.H., Hayashita-Kinoh, H., Maruoka, Y., Nakamura-Takahasi, A., Kimura, K., Takeda, S., Okada, T. :
Dental pulp stem cells can improve muscle dysfunction in animal models of Duchenne muscular dystrophy. Stem Cell Res Ther 12:78, 2021. Pubmed reference: 33494794. DOI: 10.1186/s13287-020-02099-3.
Schneider, S.M., Sansom, G.T., Guo, L.J., Furuya, S., Weeks, B.R., Kornegay, J.N. :
Natural history of histopathologic changes in cardiomyopathy of Golden Retriever muscular dystrophy. Front Vet Sci 8:759585, 2021. Pubmed reference: 35252412. DOI: 10.3389/fvets.2021.759585.
Tone, Y., Mamchaoui, K., Tsoumpra, M.K., Hashimoto, Y., Terada, R., Maruyama, R., Gait, M.J., Arzumanov, A.A., McClorey, G., Imamura, M., Takeda, S., Yokota, T., Wood, M.J.A., Mouly, V., Aoki, Y. :
Immortalized canine dystrophic myoblast cell lines for development of peptide-conjugated splice-switching oligonucleotides. Nucleic Acid Ther 31:172-181, 2021. Pubmed reference: 33567244. DOI: 10.1089/nat.2020.0907.
Zaynitdinova, M.I., Lavrov, A.V., Smirnikhina, S.A. :
Animal models for researching approaches to therapy of Duchenne muscular dystrophy. Transgenic Res 30:709-725, 2021. Pubmed reference: 34409525. DOI: 10.1007/s11248-021-00278-3.
2020 Barthélémy, I., Calmels, N., Weiss, R.B., Tiret, L., Vulin, A., Wein, N., Peccate, C., Drougard, C., Beroud, C., Deburgrave, N., Thibaud, J.L., Escriou, C., Punzón, I., Garcia, L., Kaplan, J.C., Flanigan, K.M., Leturcq, F., Blot, S. :
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle 10:23, 2020. Pubmed reference: 32767978. DOI: 10.1186/s13395-020-00239-0.
Brinkmeyer-Langford, C., Chu, C., Balog-Alvarez, C., Yu, X., Cai, J.J., Nabity, M., Kornegay, J.N. :
Correction: Expression profiling of disease progression in canine model of Duchenne muscular dystrophy. PLoS One 15:e0236916, 2020. Pubmed reference: 32702009. DOI: 10.1371/journal.pone.0236916.
Brunetti, B., Muscatello, L.V., Letko, A., Papa, V., Cenacchi, G., Grillini, M., Murgiano, L., Jagannathan, V., Drögemüller, C. :
X-linked duchenne-type muscular dystrophy in Jack Russell terrier associated with a partial deletion of the canine DMD gene. Genes (Basel) 11:1175, 2020. Pubmed reference: 33049940. DOI: 10.3390/genes11101175.
Chemello, F., Bassel-Duby, R., Olson, E.N. :
Correction of muscular dystrophies by CRISPR gene editing. J Clin Invest 130:2766-2776, 2020. Pubmed reference: 32478678. DOI: 10.1172/JCI136873.
Story, B.D., Miller, M.E., Bradbury, A.M., Million, E.D., Duan, D., Taghian, T., Faissler, D., Fernau, D., Beecy, S.J., Gray-Edwards, H.L. :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101. DOI: 10.3389/fvets.2020.00080.
Switonski, M. :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet 61:179-186, 2020. Pubmed reference: 32189222. DOI: 10.1007/s13353-020-00554-8.
2019 Guo, L.J., Soslow, J.H., Bettis, A.K., Nghiem, P.P., Cummings, K.J., Lenox, M.W., Miller, M.W., Kornegay, J.N., Spurney, C.F. :
Natural history of cardiomyopathy in adult dogs with Golden Retriever muscular dystrophy. J Am Heart Assoc 8:e012443, 2019. Pubmed reference: 31411085. DOI: 10.1161/JAHA.119.012443.
Lim, K.R.Q., Echigoya, Y., Nagata, T., Kuraoka, M., Kobayashi, M., Aoki, Y., Partridge, T., Maruyama, R., Takeda, S., Yokota, T. :
Efficacy of multi-exon skipping rreatment in Duchenne muscular dystrophy dog model neonates. Mol Ther 27:76-86, 2019. Pubmed reference: 30448197. DOI: 10.1016/j.ymthe.2018.10.011.
Nghiem, P.P., Kornegay, J.N. :
Gene therapies in canine models for Duchenne muscular dystrophy. Hum Genet 138:483-489, 2019. Pubmed reference: 30734120. DOI: 10.1007/s00439-019-01976-z.
Nghiem, P.P., Kornegay, J.N. :
Correction to: Gene therapies in canine models for Duchenne muscular dystrophy. Hum Genet 138:491, 2019. Pubmed reference: 30783825. DOI: 10.1007/s00439-019-01982-1.
Wasala, N.B., Hakim, C.H., Chen, S.J., Yang, N.N., Duan, D. :
Questions Answered and Unanswered by the First CRISPR Editing Study in a Canine Model of Duchenne Muscular Dystrophy. Hum Gene Ther 30:535-543, 2019. Pubmed reference: 30648435. DOI: 10.1089/hum.2018.243.
2018 Amoasii, L., Hildyard, J.C.W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., Harron, R., Stathopoulou, T.R., Massey, C., Shelton, J.M., Bassel-Duby, R., Piercy, R.J., Olson, E.N. :
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science 362:86-91, 2018. Pubmed reference: 30166439. DOI: 10.1126/science.aau1549.
Brinkmeyer-Langford, C., Chu, C., Balog-Alvarez, C., Yu, X., Cai, J.J., Nabity, M., Kornegay, J.N. :
Expression profiling of disease progression in canine model of Duchenne muscular dystrophy. PLoS One 13:e0194485, 2018. Pubmed reference: 29554127. DOI: 10.1371/journal.pone.0194485.
Cohen, J. :
In dogs, CRISPR fixes a muscular dystrophy. Science 361:835, 2018. Pubmed reference: 30166469. DOI: 10.1126/science.361.6405.835.
Eresen, A., Alic, L., Kornegay, J., Ji, J.X. :
Assessment of disease severity in a Canine Model of Duchenne Muscular Dystrophy: Classification of Quantitative MRI. Conf Proc IEEE Eng Med Biol Soc 2018:648-651, 2018. Pubmed reference: 30440480. DOI: 10.1109/EMBC.2018.8512303.
Maruyama, R., Aoki, Y., Takeda, S., Yokota, T. :
In Vivo Evaluation of Multiple Exon Skipping with Peptide-PMOs in Cardiac and Skeletal Muscles in Dystrophic Dogs. Methods Mol Biol 1828:365-379, 2018. Pubmed reference: 30171554. DOI: 10.1007/978-1-4939-8651-4_23.
Mata López, S., Hammond, J.J., Rigsby, M.B., Balog-Alvarez, C.J., Kornegay, J.N., Nghiem, P.P. :
A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20. Skelet Muscle 8:16, 2018. Pubmed reference: 29843823. DOI: 10.1186/s13395-018-0162-1.
Nakamura, A., Aoki, Y., Tsoumpra, M., Yokota, T., Takeda, S. :
In Vitro Multiexon Skipping by Antisense PMOs in Dystrophic Dog and Exon 7-Deleted DMD Patient. Methods Mol Biol 1828:151-163, 2018. Pubmed reference: 30171540. DOI: 10.1007/978-1-4939-8651-4_9.
Sánchez, L., Beltrán, E., de Stefani, A., Guo, L.T., Shea, A., Shelton, G.D., De Risio, L., Burmeister, L.M. :
Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs. PLoS One 13:e0193372, 2018. Pubmed reference: 29474464. DOI: 10.1371/journal.pone.0193372.
Shrader, S.M., Jung, S., Denney, T.S., Smith, B.F. :
Characterization of Australian Labradoodle dystrophinopathy. Neuromuscul Disord 28:927-937, 2018. Pubmed reference: 30286978. DOI: 10.1016/j.nmd.2018.08.008.
2017 Kodippili, K., Hakim, C., Pan, X., Yang, H.T., YUe, Y., Zhang, Y., Shin, J.H., Yang, N.N., Duan, D. :
Dual AAV gene therapy for Duchenne muscular dystrophy with a 7-kb mini-dystrophin gene in the canine model. Hum Gene Ther 29:299-311, 2017. Pubmed reference: 28793798. DOI: 10.1089/hum.2017.095.
Kornegay, J.N. :
The golden retriever model of Duchenne muscular dystrophy. Skelet Muscle 7:9, 2017. Pubmed reference: 28526070. DOI: 10.1186/s13395-017-0124-z.
Le Guiner, C., Servais, L., Montus, M., Larcher, T., Fraysse, B., Moullec, S., Allais, M., François, V., Dutilleul, M., Malerba, A., Koo, T., Thibaut, J.L., Matot, B., Devaux, M., Le Duff, J., Deschamps, J.Y., Barthelemy, I., Blot, S., Testault, I., Wahbi, K., Ederhy, S., Martin, S., Veron, P., Georger, C., Athanasopoulos, T., Masurier, C., Mingozzi, F., Carlier, P., Gjata, B., Hogrel, J.Y., Adjali, O., Mavilio, F., Voit, T., Moullier, P., Dickson, G. :
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nat Commun 8:16105, 2017. Pubmed reference: 28742067. DOI: 10.1038/ncomms16105.
Maruyama, R., Echigoya, Y., Caluseriu, O., Aoki, Y., Takeda, S., Yokota, T. :
Systemic Delivery of Morpholinos to Skip Multiple Exons in a Dog Model of Duchenne Muscular Dystrophy. Methods Mol Biol 1565:201-213, 2017. Pubmed reference: 28364245. DOI: 10.1007/978-1-4939-6817-6_17.
Nghiem, P.P., Bello, L., Stoughton, W.B., López, S.M., Vidal, A.H., Hernandez, B.V., Hulbert, K.N., Gourley, T.R., Bettis, A.K., Balog-Alvarez, C.J., Heath-Barnett, H., Kornegay, J.N. :
Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy


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VanBelzen, D.J., Malik, A.S., Henthorn, P.S., Kornegay, J.N., Stedman, H.H. :
Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes. Mol Ther Methods Clin Dev 4:62-71, 2017. Pubmed reference: 28344992. DOI: 10.1016/j.omtm.2016.12.001.
Wilson, K., Faelan, C., Patterson-Kane, J.C., Rudmann, D.G., Moore, S.A., Frank, D., Charleston, J., Tinsley, J., Young, G.D., Milici, A.J. :
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification. Toxicol Pathol 45:961-976, 2017. Pubmed reference: 28974147. DOI: 10.1177/0192623317734823.
2016 Acosta, A.R., Van Wie, E., Stoughton, W.B., Bettis, A.K., Barnett, H.H., LaBrie, N.R., Balog-Alvarez, C.J., Nghiem, P.P., Cummings, K.J., Kornegay, J.N. :
Use of the six-minute walk test to characterize golden retriever muscular dystrophy. Neuromuscul Disord 26:865-872, 2016. Pubmed reference: 27818009. DOI: 10.1016/j.nmd.2016.09.024.
Brinkmeyer-Langford, C., Balog-Alvarez, C., Cai, J.J., Davis, B.W., Kornegay, J.N. :
Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy. BMC Genomics 17:665, 2016. Pubmed reference: 27549615. DOI: 10.1186/s12864-016-2948-z.
Galindo, C.L., Soslow, J.H., Brinkmeyer-Langford, C.L., Gupte, M., Smith, H.M., Sengsayadeth, S., Sawyer, D.B., Benson, D.W., Kornegay, J.N., Markham, L.W. :
Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne muscular dystrophy. Pediatr Res 79:629-36, 2016. Pubmed reference: 26672735. DOI: 10.1038/pr.2015.257.
Gentil, C., Le Guiner, C., Falcone, S., Hogrel, J.Y., Peccate, C., Lorain, S., Benkhelifa-Ziyyat, S., Guigand, L., Montus, M., Servais, L., Voit, T., Piétri-Rouxel, F. :
Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy. Hum Gene Ther 27:712-26, 2016. Pubmed reference: 27279388. DOI: 10.1089/hum.2016.041.
Kornegay, J.N., Bogan, D.J., Bogan, J.R., Dow, J.L., Wang, J., Fan, Z., Liu, N., Warsing, L.C., Grange, R.W., Ahn, M., Balog-Alvarez, C.J., Cotten, S.W., Willis, M.S., Brinkmeyer-Langford, C., Zhu, H., Palandra, J., Morris, C.A., Styner, M.A., Wagner, K.R. :
Dystrophin-deficient dogs with reduced myostatin have unequal muscle growth and greater joint contractures. Skelet Muscle 6:14, 2016. Pubmed reference: 27047655. DOI: 10.1186/s13395-016-0085-7.
Miskew Nichols, B., Aoki, Y., Kuraoka, M., Lee, J.J., Takeda, S., Yokota, T. :
Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy. J Vis Exp :53776, 2016. Pubmed reference: 27285612. DOI: 10.3791/53776.
Nghiem, P.P., Bello, L., Balog-Alvarez, C., Mata López, S., Bettis, A., Barnett, H., Hernandez, B., Schatzberg, S.J., Piercy, R.J., Kornegay, J.N. :
Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy Mamm Genome 28:106-113, 2016. Pubmed reference: 28028563. DOI: 10.1007/s00335-016-9675-2.
Sitzia, C., Farini, A., Jardim, L., Razini, P., Belicchi, M., Cassinelli, L., Villa, C., Erratico, S., Parolini, D., Bella, P., Carlos da Silva Bizario, J., Garcia, L., Dias Baruffi, M., Meregalli, M., Torrente, Y. :
Adaptive immune response impairs the efficacy of autologous transplantation of engineered stem cells in dystrophic dogs. Mol Ther 24:1949-1964, 2016. Pubmed reference: 27506452. DOI: 10.1038/mt.2016.163.
Terrill, J.R., Duong, M.N., Turner, R., Le Guiner, C., Boyatzis, A., Kettle, A.J., Grounds, M.D., Arthur, P.G. :
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy. Redox Biol 9:276-286, 2016. Pubmed reference: 27611888. DOI: 10.1016/j.redox.2016.08.016.
2015 Atencia-Fernandez, S., Shiel, R.E., Mooney, C.T., Nolan, C.M. :
Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes. Anim Genet 46:175-84, 2015. Pubmed reference: 25644216. DOI: 10.1111/age.12266.
Duan, D. :
Duchenne Muscular Dystrophy Gene Therapy in the Canine Model. Hum Gene Ther Clin Dev 26:57-69, 2015. Pubmed reference: 25710459. DOI: 10.1089/humc.2015.006.
Duan, D., Hakim, C.H., Ambrosio, C.E., Smith, B.F., Sweeney, H.L. :
Early loss of ambulation is not a representative clinical feature in Duchenne muscular dystrophy dogs: remarks on the article of Barthélémy et al. Dis Model Mech 8:193-4, 2015. Pubmed reference: 25740329. DOI: 10.1242/dmm.019216.
Jenkins, C.A., Forman, O.P. :
Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog. Canine Genet Epidemiol 2:7, 2015. Pubmed reference: 26401335. DOI: 10.1186/s40575-015-0019-4.
McGreevy, J.W., Hakim, C.H., McIntosh, M.A., Duan, D. :
Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy. Dis Model Mech 8:195-213, 2015. Pubmed reference: 25740330. DOI: 10.1242/dmm.018424.
Robriquet, F., Lardenois, A., Babarit, C., Larcher, T., Dubreil, L., Leroux, I., Zuber, C., Ledevin, M., Deschamps, J.Y., Fromes, Y., Cherel, Y., Guevel, L., Rouger, K. :
Differential Gene Expression Profiling of Dystrophic Dog Muscle after MuStem Cell Transplantation. PLoS One 10:e0123336, 2015. Pubmed reference: 25955839. DOI: 10.1371/journal.pone.0123336.
Vieira, N.M., Elvers, I., Alexander, M.S., Moreira, Y.B., Eran, A., Gomes, J.P., Marshall, J.L., Karlsson, E.K., Verjovski-Almeida, S., Lindblad-Toh, K., Kunkel, L.M., Zatz, M. :
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell 163:1204-13, 2015. Pubmed reference: 26582133. DOI: 10.1016/j.cell.2015.10.049.
Vieira, N.M., Guo, L.T., Estrela, E., Kunkel, L.M., Zatz, M., Shelton, G.D. :
Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscul Disord 25:363-70, 2015. Pubmed reference: 25813339. DOI: 10.1016/j.nmd.2015.02.012.
2014 DeVanna, J.C., Kornegay, J.N., Bogan, D.J., Bogan, J.R., Dow, J.L., Hawkins, E.C. :
Respiratory dysfunction in unsedated dogs with golden retriever muscular dystrophy. Neuromuscul Disord 24:63-73, 2014. Pubmed reference: 24295812. DOI: 10.1016/j.nmd.2013.10.001.
Martin, P.T., Golden, B., Okerblom, J., Camboni, M., Chandrasekharan, K., Xu, R., Varki, A., Flanigan, K.M., Kornegay, J.N. :
A Comparative Study of N-glycolylneuraminic Acid (Neu5Gc) and Cytotoxic T Cell (CT) Carbohydrate Expression in Normal and Dystrophin-Deficient Dog and Human Skeletal Muscle. PLoS One 9:e88226, 2014. Pubmed reference: 24505439. DOI: 10.1371/journal.pone.0088226.
Mead, A.F., Petrov, M., Malik, A.S., Mitchell, M.A., Childers, M.K., Bogan, J.R., Seidner, G., Kornegay, J.N., Stedman, H.H. :
Diaphragm Remodeling and Compensatory Respiratory Mechanics in a Canine Model of Duchenne Muscular Dystrophy. J Appl Physiol (1985) 116:807-15, 2014. Pubmed reference: 24408990. DOI: 10.1152/japplphysiol.00833.2013.
Peres, M.A., da Rocha, A.M., Vannucchi, C.I., Mendes, C.M., Cavalcanti, P.V., Nichi, M., Ambrosio, C.E., Miglino, M.A., Visintin, J.A., D'Ávila Assumpção, M.E. :
Semen analysis of Golden Retriever healthy dogs and those affected by muscular dystrophy. Andrologia 46:277-82, 2014. Pubmed reference: 23463904. DOI: 10.1111/and.12079.
Wang, Z., Halbert, C.L., Lee, D., Butts, T., Tapscott, S.J., Storb, R., Miller, A.D. :
Elimination of contaminating cap genes in AAV vector virions reduces immune responses and improves transgene expression in a canine gene therapy model. Gene Ther 21:363-70, 2014. Pubmed reference: 24500525. DOI: 10.1038/gt.2014.4.
2013 Araujo, K.P., Bonuccelli, G., Duarte, C.N., Gaiad, T.P., Moreira, D.F., Feder, D., Belizario, J.E., Miglino, M.A., Lisanti, M.P., Ambrosio, C.E. :
Bortezomib (PS-341) treatment decreases inflammation and partially rescues the expression of the dystrophin-glycoprotein complex in GRMD dogs. PLoS One 8:e61367, 2013. Pubmed reference: 23579193. DOI: 10.1371/journal.pone.0061367.
Baroncelli, A.B., Abellonio, F., Pagano, T.B., Esposito, I., Peirone, B., Papparella, S., Paciello, O. :
Muscular dystrophy in a dog resembling human Becker muscular dystrophy. J Comp Pathol 150:429-33, 2013. Pubmed reference: 24529507. DOI: 10.1016/j.jcpa.2013.12.006.
Brinkmeyer-Langford, C., Kornegay, J.N. :
Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model. Curr Genomics 14:330-42, 2013. Pubmed reference: 24403852. DOI: 10.2174/13892029113149990004.
Broeckx, B.J., Coopman, F., Verhoeven, G.E., Van Haeringen, W., van de Goor, L., Bosmans, T., Gielen, I., Saunders, J.H., Soetaert, S.S., Van Bree, H., Van Neste, C., Van Nieuwerburgh, F., Van Ryssen, B., Verelst, E., Van Steendam, K., Deforce, D. :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013. Pubmed reference: 24069350. DOI: 10.1371/journal.pone.0074811.
Cotten, S.W., Kornegay, J.N., Bogan, D.J., Wadosky, K.M., Patterson, C., Willis, M.S. :
Genetic myostatin decrease in the golden retriever muscular dystrophy model does not significantly affect the ubiquitin proteasome system despite enhancing the severity of disease. Am J Transl Res 6:43-53, 2013. Pubmed reference: 24349620.
Fan, Z., Wang, J., Ahn, M., Shiloh-Malawsky, Y., Chahin, N., Elmore, S., Bagnell, C.R., Wilber, K., An, H., Lin, W., Zhu, H., Styner, M., Kornegay, J.N. :
Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy. Neuromuscul Disord 24:178-91, 2013. Pubmed reference: 24295811. DOI: 10.1016/j.nmd.2013.10.005.
Kane, A.M., DeFrancesco, T.C., Boyle, M.C., Malarkey, D.E., Ritchey, J.W., Atkins, C.E., Cullen, J.M., Kornegay, J.N., Keene, B.W. :
Cardiac structure and function in female carriers of a canine model of Duchenne muscular dystrophy. Res Vet Sci 94:610-7, 2013. Pubmed reference: 23231955. DOI: 10.1016/j.rvsc.2012.09.027.
Kerwin, W.S., Naumova, A., Storb, R., Tapscott, S.J., Wang, Z. :
Mapping contrast agent uptake and retention in MRI studies of myocardial perfusion: case control study of dogs with Duchenne muscular dystrophy. Int J Cardiovasc Imaging 29:819-26, 2013. Pubmed reference: 23070737. DOI: 10.1007/s10554-012-0137-y.
Nghiem, P.P., Hoffman, E.P., Mittal, P., Brown, K.J., Schatzberg, S.J., Ghimbovschi, S., Wang, Z., Kornegay, J.N. :
Sparing of the Dystrophin-Deficient Cranial Sartorius Muscle Is Associated with Classical and Novel Hypertrophy Pathways in GRMD Dogs. Am J Pathol 183:1411-24, 2013. Pubmed reference: 24160322. DOI: 10.1016/j.ajpath.2013.07.013.
Shin, J.H., Greer, B., Hakim, C.H., Zhou, Z., Chung, Y.C., Duan, Y., He, Z., Duan, D. :
Quantitative phenotyping of Duchenne muscular dystrophy dogs by comprehensive gait analysis and overnight activity monitoring. PLoS One 8:e59875, 2013. Pubmed reference: 23544107. DOI: 10.1371/journal.pone.0059875.
Shin, J.H., Pan, X., Hakim, C.H., Yang, H.T., Yue, Y., Zhang, K., Terjung, R.L., Duan, D. :
Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy. Mol Ther 21:750-7, 2013. Pubmed reference: 23319056. DOI: 10.1038/mt.2012.283.
Wang, J., Fan, Z., Vandenborne, K., Walter, G., Shiloh-Malawsky, Y., An, H., Kornegay, J.N., Styner, M.A. :
A computerized MRI biomarker quantification scheme for a canine model of Duchenne muscular dystrophy. Int J Comput Assist Radiol Surg 8:763-74, 2013. Pubmed reference: 23299128. DOI: 10.1007/s11548-012-0810-6.
Wuebbles, R.D., Sarathy, A., Kornegay, J.N., Burkin, D.J. :
Levels of α7 integrin and laminin-α2 are increased following prednisone treatment in the mdx mouse and GRMD dog models of Duchenne muscular dystrophy. Dis Model Mech 6:1175-84, 2013. Pubmed reference: 23846963. DOI: 10.1242/dmm.012211.
2012 Barbash, I.M., Cecchini, S., Faranesh, A.Z., Virag, T., Li, L., Yang, Y., Hoyt, R.F., Kornegay, J.N., Bogan, J.R., Garcia, L., Lederman, R.J., Kotin, R.M. :
MRI roadmap-guided transendocardial delivery of exon-skipping recombinant adeno-associated virus restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Gene Ther 20:274-82, 2012. Pubmed reference: 22551778. DOI: 10.1038/gt.2012.38.
Barthélémy, I., Uriarte, A., Drougard, C., Unterfinger, Y., Thibaud, J.L., Blot, S. :
Effects of an immunosuppressive treatment in the GRMD dog model of Duchenne muscular dystrophy. PLoS One 7:e48478, 2012. Pubmed reference: 23185260. DOI: 10.1371/journal.pone.0048478.
Bedu, A.S., Labruyère, J.J., Laurent Thibaud, J., Barthélémy, I., Leperlier, D., Saunders, J.H., Blot, S. :
Age-related thoracic radiographic changes in Golden and Labrador Retriever muscular dystrophy Vet Radiol Ultrasound 53:492-500, 2012. Pubmed reference: 22702494. DOI: 10.1111/j.1740-8261.2012.01948.x.
Cassano, M., Berardi, E., Crippa, S., Toelen, J., Barthelemy, I., Micheletti, R., Chuah, M., Vanderdriessche, T., Debyser, Z., Blot, S., Sampaolesi, M. :
Alteration of cardiac progenitor cell potency in GRMD dogs. Cell Transplant 21:1945-67, 2012. Pubmed reference: 22513051. DOI: 10.3727/096368912X638919.
Kornegay, J.N., Bogan, J.R., Bogan, D.J., Childers, M.K., Li, J., Nghiem, P., Detwiler, D.A., Larsen, C.A., Grange, R.W., Bhavaraju-Sanka, R.K., Tou, S., Keene, B.P., Howard, J.F., Wang, J., Fan, Z., Schatzberg, S.J., Styner, M.A., Flanigan, K.M., Xiao, X., Hoffman, E.P. :
Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies. Mamm Genome 23:85-108, 2012. Pubmed reference: 22218699. DOI: 10.1007/s00335-011-9382-y.
Su, J.B., Cazorla, O., Blot, S., Blanchard-Gutton, N., Ait Mou, Y., Barthélémy, I., Sambin, L., Sampedrano, C.C., Gouni, V., Unterfinger, Y., Aguilar, P., Thibaud, J.L., Bizé, A., Pouchelon, J.L., Dabiré, H., Ghaleh, B., Berdeaux, A., Chetboul, V., Lacampagne, A., Hittinger, L. :
Bradykinin restores left ventricular function, sarcomeric protein phosphorylation, and e/nNOS levels in dogs with Duchenne muscular dystrophy cardiomyopathy. Cardiovasc Res 95:86-96, 2012. Pubmed reference: 22562664. DOI: 10.1093/cvr/cvs161.
Vieira, N.M., Valadares, M., Zucconi, E., Secco, M., Bueno, C.R., Brandalise, V., Assoni, A., Gomes, J., Landini, V., Andrade, T., Caetano, H.V., Vainzof, M., Zatz, M. :
Human adipose-derived mesenchymal stromal cells injected systemically into GRMD dogs without immunosuppression are able to reach the host muscle and express human dystrophin. Cell Transplant 21:1407-17, 2012. Pubmed reference: 23168016. DOI: 10.3727/096368911X.
Vulin, A., Barthélémy, I., Goyenvalle, A., Thibaud, J.L., Beley, C., Griffith, G., Benchaouir, R., le Hir, M., Unterfinger, Y., Lorain, S., Dreyfus, P., Voit, T., Carlier, P., Blot, S., Garcia, L. :
Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. Mol Ther 20:2120-33, 2012. Pubmed reference: 22968479. DOI: 10.1038/mt.2012.181.
Wang, Z., Storb, R., Halbert, C.L., Banks, G.B., Butts, T.M., Finn, E.E., Allen, J.M., Miller, A.D., Chamberlain, J.S., Tapscott, S.J. :
Successful regional delivery and long-term expression of a dystrophin gene in canine muscular dystrophy: a preclinical model for human therapies. Mol Ther 20:1501-7, 2012. Pubmed reference: 22692496. DOI: 10.1038/mt.2012.111.
Yang, H.T., Shin, J.H., Hakim, C.H., Pan, X., Terjung, R.L., Duan, D. :
Dystrophin deficiency compromises force production of the extensor carpi ulnaris muscle in the canine model of Duchenne muscular dystrophy. PLoS One 7:e44438, 2012. Pubmed reference: 22973449. DOI: 10.1371/journal.pone.0044438.
Yokota, T., Nakamura, A., Nagata, T., Saito, T., Kobayashi, M., Aoki, Y., Echigoya, Y., Partridge, T., Hoffman, E.P., Takeda, S. :
Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs. Nucleic Acid Ther 22:306-15, 2012. Pubmed reference: 22888777. DOI: 10.1089/nat.2012.0368.
2011 Guevel, L., Lavoie, J.R., Perez-Iratxeta, C., Rouger, K., Dubreil, L., Feron, M., Talon, S., Brand, M., Megeney, L.A. :
Quantitative proteomic analysis of dystrophic dog muscle. J Proteome Res 10:2465-78, 2011. Pubmed reference: 21410286. DOI: 10.1021/pr2001385.
Hoffman, E.P., Bronson, A., Levin, A.A., Takeda, S., Yokota, T., Baudy, A.R., Connor, E.M. :
Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through. Am J Pathol 179:12-22, 2011. Pubmed reference: 21703390. DOI: 10.1016/j.ajpath.2011.03.050.
Kornegay, JN., Bogan, JR., Bogan, DJ., Childers, MK., Grange, RW. :
Golden retriever muscular dystrophy (GRMD): Developing and maintaining a colony and physiological functional measurements. Methods Mol Biol 709:105-23, 2011. Pubmed reference: 21194024. DOI: 10.1007/978-1-61737-982-6_7.
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Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications. J Biomed Biotechnol 2011:184393, 2011. Pubmed reference: 21274260. DOI: 10.1155/2011/184393.
Olby, NJ., Sharp, NJ., Nghiem, PE., Keene, BW., DeFrancesco, TC., Sidley, JA., Kornegay, JN., Schatzberg, SJ. :
Clinical progression of X-linked muscular dystrophy in two German Shorthaired Pointers. J Am Vet Med Assoc 238:207-12, 2011. Pubmed reference: 21235374. DOI: 10.2460/javma.238.2.207.
Smith, BF., Yue, Y., Woods, PR., Kornegay, JN., Shin, JH., Williams, RR., Duan, D. :
An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest 91:216-31, 2011. Pubmed reference: 20714321. DOI: 10.1038/labinvest.2010.146.
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Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy. Methods Mol Biol 709:299-312, 2011. Pubmed reference: 21194037. DOI: 10.1007/978-1-61737-982-6_20.
2010 Kornegay, JN., Li, J., Bogan, JR., Bogan, DJ., Chen, C., Zheng, H., Wang, B., Qiao, C., Howard, JF., Xiao, X. :
Widespread muscle expression of an AAV9 human mini-dystrophin vector after intravenous injection in neonatal dystrophin-deficient dogs. Mol Ther 18:1501-8, 2010. Pubmed reference: 20517298. DOI: 10.1038/mt.2010.94.
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The potential of exon skipping for treatment for Duchenne muscular dystrophy. J Child Neurol 25:1165-70, 2010. Pubmed reference: 20519674. DOI: 10.1177/0883073810371130.
Saito, T., Nakamura, A., Aoki, Y., Yokota, T., Okada, T., Osawa, M., Takeda, S. :
Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. PLoS One 5:e12239, 2010. Pubmed reference: 20805873. DOI: 10.1371/journal.pone.0012239.
Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ. :
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5:e8647, 2010. Pubmed reference: 20072625. DOI: 10.1371/journal.pone.0008647.
Zucconi, E., Valadares, MC., Vieira, NM., Bueno, CR., Secco, M., Jazedje, T., da Silva, HC., Vainzof, M., Zatz, M. :
Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog. Neuromuscul Disord 20:64-70, 2010. Pubmed reference: 19944604. DOI: 10.1016/j.nmd.2009.10.011.
2009 Piercy, RJ., Walmsley, G. :
Muscular dystrophy in Cavalier King Charles spaniels. Vet Rec 165:62, 2009. Pubmed reference: 19596683.
Willmann, R., Possekel, S., Dubach-Powell, J., Meier, T., Ruegg, MA. :
Mammalian animal models for Duchenne muscular dystrophy. Neuromuscul Disord 19:241-9, 2009. Pubmed reference: 19217290. DOI: 10.1016/j.nmd.2008.11.015.
Yokota, T., Lu, QL., Partridge, T., Kobayashi, M., Nakamura, A., Takeda, S., Hoffman, E. :
Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol 65:667-76, 2009. Pubmed reference: 19288467. DOI: 10.1002/ana.21627.
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Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]. Genet Mol Res 8:818-21, 2009. Pubmed reference: 19731203. DOI: 10.4238/vol8-3gmrCarta01.
2008 Banks, G.B., Chamberlain, J.S. :
The value of mammalian models for duchenne muscular dystrophy in developing therapeutic strategies. Curr Top Dev Biol 84:431-53, 2008. Pubmed reference: 19186250. DOI: 10.1016/S0070-2153(08)00609-1.
Urasawa, N., Wada, MR., Machida, N., Yuasa, K., Shimatsu, Y., Wakao, Y., Yuasa, S., Sano, T., Nonaka, I., Nakamura, A., Takeda, S. :
Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71. Circulation 117:2437-48, 2008. Pubmed reference: 18458171. DOI: 10.1161/CIRCULATIONAHA.107.739326.
2007 Smith, B.F., Kornegay, J.N., Duan, D. :
Independent canine models of Duchenne muscular dystrophy due to intronic insertions of repetitive DNA. Mol Ther. 15(Suppl 1):S51, 2007.
2006 McClorey, G., Moulton, HM., Iversen, PL., Fletcher, S., Wilton, SD. :
Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther 13:1373-81, 2006. Pubmed reference: 16724091. DOI: 10.1038/sj.gt.3302800.
2005 Chetboul, V., Tessier-Vetzel, D., Escriou, C., Tissier, R., Carlos, C., Boussouf, M., Pouchelon, JL., Blot, S., Derumeaux, G. :
Diagnostic potential of natriuretic peptides in the occult phase of golden retriever muscular dystrophy cardiomyopathy. J Vet Intern Med 18:845-50, 2005. Pubmed reference: 15638261.
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Microvessel density in muscles of dogs with golden retriever muscular dystrophy. Neuromuscul Disord 15:154-63, 2005. Pubmed reference: 15694137. DOI: 10.1016/j.nmd.2004.11.002.
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Canine and feline models of human inherited muscle diseases. Neuromuscul Disord 15:127-38, 2005. Pubmed reference: 15694134. DOI: 10.1016/j.nmd.2004.10.019.
Shimatsu, Y., Yoshimura, M., Yuasa, K., Urasawa, N., Tomohiro, M., Nakura, M., Tanigawa, M., Nakamura, A., Takeda, S. :
Major clinical and histopathological characteristics of canine X-linked muscular dystrophy in Japan, CXMDJ. Acta Myol 24:145-54, 2005. Pubmed reference: 16550932.
2004 Chetboul, V., Carlos, C., Blot, S., Thibaud, JL., Escriou, C., Tissier, R., Retortillo, JL., Pouchelon, JL. :
Tissue Doppler assessment of diastolic and systolic alterations of radial and longitudinal left ventricular motions in Golden Retrievers during the preclinical phase of cardiomyopathy associated with muscular dystrophy. Am J Vet Res 65:1335-41, 2004. Pubmed reference: 15524319.
Chetboul, V., Escriou, C., Tessier, D., Richard, V., Pouchelon, JL., Thibault, H., Lallemand, F., Thuillez, C., Blot, S., Derumeaux, G. :
Tissue Doppler imaging detects early asymptomatic myocardial abnormalities in a dog model of Duchenne's cardiomyopathy. Eur Heart J 25:1934-9, 2004. Pubmed reference: 15522464. DOI: 10.1016/j.ehj.2004.08.013.
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Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. Blood 104:4311-8, 2004. Pubmed reference: 15328150. DOI: 10.1182/blood-2004-06-2247.
Jones, B.R., Brennan, S., Mooney, C.T., Callanan, J.J., McAllister, H., Guo, L.T., Martin, P.T., Engvall, E., Shelton, G.D. :
Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs. J Neurol Sci 217:143-9, 2004. Pubmed reference: 14706216. DOI: 10.1016/j.jns.2003.09.002.
Liu, JM., Okamura, CS., Bogan, DJ., Bogan, JR., Childers, MK., Kornegay, JN. :
Effects of prednisone in canine muscular dystrophy. Muscle Nerve 30:767-73, 2004. Pubmed reference: 15468337. DOI: 10.1002/mus.20154.
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Muscular dystrophies: expanding our knowledge in companion animals. Vet J 168:6-8, 2004. Pubmed reference: 15158202. DOI: 10.1016/j.tvjl.2004.03.013.
2003 Cerletti, M., Negri, T., Cozzi, F., Colpo, R., Andreetta, F., Croci, D., Davies, K.E., Cornelio, F., Pozza, O., Karpati, G., Gilbert, R., Mora, M. :
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Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies. Int J Exp Pathol 84:165-72, 2003. Pubmed reference: 14632630.
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The cranial sartorius muscle undergoes true hypertrophy in dogs with golden retriever muscular dystrophy Neuromuscular Disorders 13:493-500, 2003. Pubmed reference: 12899877.
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Canine X-linked muscular dystrophy in Japan (CXMDJ) Experimental Animals 52:93-7, 2003. Pubmed reference: 12806883.
2002 Bergman, R.L., Inzana, K.D., Monroe, W.E., Shell, L.G., Liu, L.A., Engvall, E., Shelton, G.D. :
Dystrophin-deficient muscular dystrophy in a labrador retriever Journal of the American Animal Hospital Association 38:255-261, 2002. Pubmed reference: 12022412.
Childers, M.K., Okamura, C.S., Bogan, D.J., Bogan, J.R., Petroski, G.F., McDonald, K., Kornegay, J.N. :
Eccentric contraction injury in dystrophic canine muscle Archives of Physical Medicine & Rehabilitation 83:1572-1578, 2002.
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[Animal models of Duchenne muscular dystrophy]. Rev Prat 52:937-40, 2002. Pubmed reference: 12063758.
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Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies Journal of Comparative Pathology 126:100-108, 2002. Pubmed reference: 11944998. DOI: 10.1053/jcpa.2001.0526.
Passerini, L., Bernasconi, P., Baggi, F., Confalonieri, P., Cozzi, F., Cornelio, F., Mantegazza, R. :
Fibrogenic cytokines and extent of fibrosis in muscle of dogs with X-linked golden retriever muscular dystrophy Neuromuscular Disorders 12:828-835, 2002. Pubmed reference: 12398833.
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Muscular dystrophies and other inherited myopathies. Vet Clin North Am Small Anim Pract 32:103-24, 2002. Pubmed reference: 11785725.
2001 Childers, M.K., Okamura, C.S., Bogan, D.J., Bogan, J.R., Sullivan, M.J., Kornegay, J.N. :
Myofiber injury and regeneration in a canine homologue of Duchenne muscular dystrophy American Journal of Physical Medicine & Rehabilitation 80:175-181, 2001. Pubmed reference: 11237271.
Cozzi, F., Cerletti, M., Luvoni, G.C., Lombardo, R., Brambilla, P.G., Faverzani, S., Blasevich, F., Cornelio, F., Pozza, O., Mora, M. :
Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development Acta Neuropathologica 101:469-478, 2001. Pubmed reference: 11484818.
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Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy Neuromuscular Disorders 11:239-243, 2001. Pubmed reference: 11297938.
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Evaluation of a short interspersed nucleotide element in the 3 ' untranslated region of the defective dystrophin gene of dogs with muscular dystrophy American Journal of Veterinary Research 62:1964-1968, 2001. Pubmed reference: 11763189.
2000 Bartlett, R.J., Stockinger, S., Denis, M.M., Bartlett, W.T., Inverardi, L., Le, T.T., Man, N.T., Morris, G.E., Bogan, D.J., Metcalf-Bogan, J., Kornegay, J.N. :
In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide Nature Biotechnology 18:615-622, 2000. Pubmed reference: 10835598. DOI: 10.1038/76448.
Bartlett, R.J., Stockinger, S., Denis, M.M., Bartlett, W.T., Inverardi, L., Le, T.T., Man, T.M., Morris, G.E., Bogan, D.J., Metcalf-Bogan, J., Kornegay, J.N. :
In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide (vol 18, pg 615, 2000) Nature Biotechnology 18:1209, 2000. DOI: 10.1038/81216.
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Hypertrophic muscular dystrophy in a young dog Journal of the American Veterinary Medical Association 216:878-+, 2000.
1999 Honeyman, K., Carville, K.S., Howell, J.M., Fletcher, S., Wilton, S.D. :
Development of a snapback method of single-strand conformation polymorphism analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele American Journal of Veterinary Research 60:734-737, 1999. Pubmed reference: 10376903.
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Contraction force generated by tarsal joint flexion and extension in dogs with golden retriever muscular dystrophy Journal of the Neurological Sciences 166:115-121, 1999. Pubmed reference: 10475104.
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A polymerase chain reaction screening strategy for the promoter of the canine dystrophin gene American Journal of Veterinary Research 60:1040-1046, 1999. Pubmed reference: 10490068.
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1998 Howell, J.M., Lochmüller, H., O'Hara, A., Fletcher, S., Kakulas, B.A., Massie, B., Nalbantoglu, J., Karpati, G. :
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1997 Howell, J.M., Fletcher, S., Kakulas, B.A., Ohara, M., Lochmuller, H., Karpati, G. :
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1996 Bartlett, R.J., Winand, N.J., Secore, S.L., Singer, J.T., Fletcher, S., Wilton, S., Bogan, D.J., Metcalfbogan, J.R., Bartlett, W.T., Howell, J.M., Cooper, B.J., Kornegay, J.N. :
Mutation segregation and rapid carrier detection of X-linked muscular dystrophy in dogs American Journal of Veterinary Research 57:650-654, 1996. Pubmed reference: 8723876.
1995 Koh, G.Y., Soonpaa, M.H., Klug, M.G., Pride, H.P., Cooper, B.J., Zipes, D.P., Field, L.J. :
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1994 Winand, N., Pradham, D., Cooper, B. :
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Sharp, N.J.H., Kakulas, B.A., Kornegay, J.N., Howell, J.M., Vancamp, S.D., Herbstreith, M.H., Secore, S.L., Kettle, S., Dykstra, M.J., Constantinou, C.D., Roses, A.D., Bartlett, R.J. :
Exon Skipping During Dystrophin Messenger RNA Processing in the Canine Homologue of Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy :113-126, 1992.
Sharp, N.J.H., Kornegay, J.N., Vancamp, S.D., Herbstreith, M.H., Secore, S.L., Kettle, S., Hung, W.Y., Constantinou, C.D., Dykstra, M.J., Roses, A.D., Bartlett, R.J. :
An Error in Dystrophin Messenger RNA Processing in Golden Retriever Muscular Dystrophy, an Animal Homologue of Duchenne Muscular Dystrophy Genomics 13:115-121, 1992. Pubmed reference: 1577476.
Valentine, B.A., Winand, N.J., Pradhan, D., Moise, N.S., Delahunta, A., Kornegay, J.N., Cooper, B.J. :
Canine X-Linked Muscular Dystrophy as an Animal Model of Duchenne Muscular Dystrophy - A Review American Journal of Medical Genetics 42:352-356, 1992. Pubmed reference: 1536178. DOI: 10.1002/ajmg.1320420320.
1991 Moise, NS., Valentine, BA., Brown, CA., Erb, HN., Beck, KA., Cooper, BJ., Gilmour, RF. :
Duchenne's cardiomyopathy in a canine model: electrocardiographic and echocardiographic studies. J Am Coll Cardiol 17:812-20, 1991. Pubmed reference: 1825214.
Partridge, T. :
Animal models of muscular dystrophy--what can they teach us? Neuropathol Appl Neurobiol 17:353-63, 1991. Pubmed reference: 1758568.
1990 Valentine, B.A., Cooper, B.J., Cummings, J.F., Delahunta, A. :
Canine X-Linked Muscular Dystrophy - Morphologic Lesions Journal of the Neurological Sciences 97:1-23, 1990. Pubmed reference: 2370557.
1989 Cooper, B.J. :
Animal models of Duchenne and Becker muscular dystrophy. Br Med Bull 45:703-18, 1989. Pubmed reference: 2688824. DOI: 10.1093/oxfordjournals.bmb.a072353.
1988 Cooper, B.J., Valentine, B.A. :
X-linked muscular dystrophy in the dog. Trends Genet 4:30, 1988. Pubmed reference: 3245071.
Cooper, B.J., Winand, N.J., Stedman, H., Valentine, B.A., Hoffman, E.P., Kunkel, L.M., Scott, M.O., Fischbeck, K.H., Kornegay, J.N., Avery, R.J., Williams, J.R., Schmickel, R.D., Sylvester, J.E. :
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs Nature 334:154-156, 1988. Pubmed reference: 3290691. DOI: 10.1038/334154a0.
Cooper, BJ., Valentine, BA., Wilson, S., Patterson, DF., Concannon, PW. :
Canine muscular dystrophy: confirmation of X-linked inheritance. J Hered 79:405-8, 1988. Pubmed reference: 3209849.
Valentine, B.A., Cooper, B.J., Delahunta, A., O'Quinn, R., Blue, J.T. :
Canine X-Linked Muscular Dystrophy - An Animal Model of Duchenne Muscular Dystrophy - Clinical Studies Journal of the Neurological Sciences 88:69-81, 1988. Pubmed reference: 3225630.
1986 Valentine, B.A., Cooper, B.J., Cummings, J.F., deLahunta, A. :
Progressive muscular dystrophy in a golden retriever dog: light microscope and ultrastructural features at 4 and 8 months. Acta Neuropathol 71:301-10, 1986. Pubmed reference: 3799143.
1985 Simpson, S.T., Braund, K.G. :
Myotonic dystrophy-like disease in a dog. J Am Vet Med Assoc 186:495-8, 1985. Pubmed reference: 3972711.
1980 Funkquist, B., Haraldsson, I., Stahre, L. :
Primary progressive muscular dystrophy in the dog. Vet Rec 106:341-3, 1980. Pubmed reference: 7376386.
1974 Mason, R.W. :
Muscular dystrophy in pups. N Z Vet J 22:170-2, 1974. Pubmed reference: 4531607. DOI: 10.1080/00480169.1974.34159.
1951 Innes, J.R. :
Myopathies in animals; a record of some cases including progressive muscular dystrophy (pseudo-hypertrophic) (dog), "weisses Fleisch" (lamb), neuropathic muscular atrophy (sheep) and lymphocytic/histiocytic myositis, neuritis, radiculitis (dog). Br Vet J 107:131-43, 1951. Pubmed reference: 14821563. DOI: 10.1016/s0007-1935(17)52263-0.

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