OMIA 000698-9925 : Myotonia in Capra hircus |
In other species:
dog
,
domestic cat
,
horse
,
cattle
,
sheep
,
water buffalo
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
160800
,
255700
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
1996
History:
This disorder was first reported in goats by White and Plaskett (1904).
Molecular basis:
By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans and mice), Beck et al. (1996) reported the causal mutation as a "single nucleotide change causing the substitution of proline for a conserved alanine residue in the carboxyl terminus of the goat muscle chloride channel (gCIC-1)" (now called CLCN1).
Clinical features:
"delayed relaxation of muscle secondary to sarcolemmal hyperexcitability . . . caused by diminished chloride conductance in the muscle cell membrane" (Beck et al., 1996)
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CLCN1 | chloride channel, voltage-sensitive 1 | Capra hircus | 4 | NC_030811.1 (13893461..13856529) | CLCN1 | 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.
| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Myotonia | CLCN1 | missense | G>C | 1996 | 8855341 |
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.
| 2000 | Camerino, D.C., Pierno, S., De Luca, A., Bryant, S.H. : | |
| Antimyotonic effects of tocainide enantiomers on skeletal muscle fibers of congenitally myotonic goats. Neuromuscul Disord 10:160-4, 2000. Pubmed reference: 10734261. | ||
| 1996 | Beck, C.L., Fahlke, C., George, A.L. : | |
| Molecular basis for decreased muscle chloride conductance in the myotonic goat Proceedings of the National Academy of Sciences of the United States of America 93:11248-11252, 1996. Pubmed reference: 8855341. | ||
| 1991 | Bryant, S.H., Conte-Camerino, D. : | |
| Chloride channel regulation in the skeletal muscle of normal and myotonic goats. Pflugers Arch 417:605-10, 1991. Pubmed reference: 1711670. | ||
| 1990 | Conte Camerino, D., Bryant, S.H., Mambrini, M., Franconi, F., Giotti, A. : | |
| The action of taurine on muscle fibers of normal and congenitally myotonic goats. Pharmacol Res :93-4, 1990. Pubmed reference: 2284262. | ||
| 1984 | Martin, A.F., Bryant, S.H., Mandel, F. : | |
| Isomyosin distribution in skeletal muscles of normal and myotonic goats. Muscle Nerve 7:152-60, 1984. Pubmed reference: 6717492. DOI: 10.1002/mus.880070212. | ||
| 1981 | Atkinson, J.B., Swift, L.L., Lequire, V.S. : | |
| Myotonia congenita. A histochemical and ultrastructural study in the goat: comparison with abnormalities found in human myotonia dystrophica. Am J Pathol 102:324-35, 1981. Pubmed reference: 7212017. | ||
| 1980 | Swift, L.L., Atkinson, J.B., Perkins, R.C., Dalton, L.R., LeQuire, V.S. : | |
| Electron paramagnetic resonance and saturation transfer electron paramagnetic resonance studies on erythrocytes from goats with and without heritable myotonia. J Membr Biol 52:165-72, 1980. Pubmed reference: 6245217. | ||
| 1979 | Bryant, S.H. : | |
| Myotonia in the goat. Ann N Y Acad Sci 317:314-25, 1979. Pubmed reference: 289314. | ||
| Swift, L.L., Atkinson, J.B., LeQuire, V.S. : | ||
| The composition and calcium transport activity of the sarcoplasmic reticulum from goats with and without heritable myotonia. Lab Invest 40:384-90, 1979. Pubmed reference: 106184. | ||
| 1974 | Adrian, RH., Bryant, SH. : | |
| On the repetitive discharge in myotonic muscle fibres. J Physiol 240:505-15, 1974. Pubmed reference: 4420758. | ||
| 1972 | Lipicky, R.J., Bryant, S.H. : | |
| Temperature effects on cable parameters and K efflux in normal and myotonic goat muscle. Am J Physiol 222:213-5, 1972. Pubmed reference: 5060221. | ||
| 1969 | Bryant, S.H. : | |
| Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats. J Physiol 204:539-50, 1969. Pubmed reference: 5824104. | ||
| Harvey, J.C. : | ||
| Reduced renal arginine-glycine transamidinase activity in myotonic goats and in patients with myotonic muscular dystrophy. Johns Hopkins Med J 125:270-5, 1969. Pubmed reference: 5366126. | ||
| 1968 | Bryant, S.H., Lipicky, R.J., Herzog, W.H. : | |
| Variability of myotonic signs in myotonic goats. Am J Vet Res 29:2371-81, 1968. Pubmed reference: 5749119. | ||
| 1966 | Lipicky, R.J., Bryant, S.H. : | |
| Sodium, potassium, and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia Journal of General Physiology 50:89-111, 1966. Pubmed reference: 5971035. | ||
| 1965 | Burns, T.W., Dale, H.E., Langley, P.L. : | |
| Normal and myotonic goats receiving diazacholesterol. Am J Physiol 209:1227-32, 1965. Pubmed reference: 5846925. | ||
| 1962 | Bryant, S. H. : | |
| Muscle membrane of normal and myotonic goats in normal and low external chloride Fed. Proc. (Abstract) 21:312 only, 1962. | ||
| 1933 | Clark, S.L., Luton, F.H., Cutler, J.T. : | |
| A form of congenital myotonia in goats. Anatomical Record 55:S12, 1933. | ||
| 1904 | White, G.R., Plaskett, J. : | |
| Nervous, stiff-legged, or fainting goats. American Veterinary Review 28:556-560, 1904. |
Edit History
- Created by Frank Nicholas on 16 Nov 2005
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012
- Changed by Frank Nicholas on 03 Sep 2012
- Changed by Frank Nicholas on 17 Aug 2013