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:
Mendelian 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
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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 :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. | |
Schwarz, C., Jagannathan, V., Schelling, C., Leeb, T. : | |
Intragenic dystrophin (DMD) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy. Anim Genet , 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. : |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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In dogs, CRISPR fixes a muscular dystrophy. Science 361:835, 2018. Pubmed reference: 30166469. DOI: 10.1126/science.361.6405.835. | |
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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. | |
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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. | |
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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. | |
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The golden retriever model of Duchenne muscular dystrophy. Skelet Muscle 7:9, 2017. Pubmed reference: 28526070. DOI: 10.1186/s13395-017-0124-z. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell 163:1204-13, 2015. Pubmed reference: 26582133. DOI: 10.1016/j.cell.2015.10.049. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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Alteration of cardiac progenitor cell potency in GRMD dogs. Cell Transplant 21:1945-67, 2012. Pubmed reference: 22513051. DOI: 10.3727/096368912X638919. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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. | |
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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 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. | |
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High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther 9:629-34, 1998. Pubmed reference: 9551611. DOI: 10.1089/hum.1998.9.5-629. | |
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Animal models of muscular dystrophies. Lab Anim Sci 48:8-17, 1998. Pubmed reference: 9517883. | |
1997 | Howell, J.M., Fletcher, S., Kakulas, B.A., Ohara, M., Lochmuller, H., Karpati, G. : |
Use of the dog model for duchenne muscular dystrophy in gene therapy trials Neuromuscular Disorders 7:325-328, 1997. Pubmed reference: 9267846. | |
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. : |
Stable fetal cardiomyocyte grafts in the hearts of dystrophic mice and dogs Journal of Clinical Investigation 96:2034-2042, 1995. Pubmed reference: 7560097. DOI: 10.1172/JCI118251. | |
Vanham, L.M.L., Desmidt, M., Tshamala, M., Hoorens, J.K., Mattheeuws, D.R.G. : | |
Canine X-linked muscular dystrophy in Belgian Groenendaeler shepherds Vlaams Diergeneeskundig Tijdschrift 64:102-106, 1995. | |
Vanham, L.M.L., Roels, S.L.M.F., Hoorens, J.K. : | |
Congenital dystrophy-like myopathy in a brittany spaniel puppy Progress in Veterinary Neurology 6:135-138, 1995. | |
1994 | Winand, N., Pradham, D., Cooper, B. : |
Molecular characterization of severe Duchenne-type muscular dystrophy in a family of Rottweiler dogs. Molecular Mechanism of Neuromuscular Disease. Muscular Dystrophy Association; Tucson, Ariz, USA , 1994. | |
1993 | Vanham, L.M.L., Desmidt, M., Tshamala, M., Hoorens, J.K., Mattheeuws, D.R.G. : |
Canine X-Linked Muscular Dystrophy in Belgian Groenendaeler Shepherds Journal of the American Animal Hospital Association 29:570-574, 1993. | |
1992 | Cooper, B.J., Kakulas, B.A., Howell, J.M., Roses, A.D. : |
The xmd Dog - Molecular and Phenotypic Characteristics Duchenne Muscular Dystrophy :109-111, 1992. | |
Kakulas, B.A., Bartlett, R.J., Howell, J.M., Roses, A.D. : | |
Potential Strategies for Gene Therapy in Golden Retriever Muscular Dystrophy Duchenne Muscular Dystrophy :265-277, 1992. | |
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. : |
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1980 | Funkquist, B., Haraldsson, I., Stahre, L. : |
Primary progressive muscular dystrophy in the dog. Vet Rec 106:341-3, 1980. Pubmed reference: 7376386. | |
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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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