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) (MIM number): 160800

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.

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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
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  • Changed by Frank Nicholas on 17 Aug 2013