Linkage of atypical myotonia congenita to a sodium channel locus.

Abstract

We performed linkage analysis in a pedigree segregating an allele for autosomal dominant, painful myotonia that is potassium sensitive and responsive to acetazolamide. This allele was tightly linked to a skeletal-muscle, sodium channel locus which is now a candidate for the site of the mutational defect in acetazolamide-responsive myotonia congenita. Since this sodium channel locus is completely linked to the disease allele in all hyperkalemic periodic paralysis and paramyotonia congenita pedigrees studied, the molecular alteration causing acetazolamide-responsive myotonia congenita is likely an allelic defect in this human, skeletal-muscle, sodium channel gene.

• Authors: L J Ptacek, R Tawil, R C Griggs, D Storvick, M Leppert
• Journal: Neurology (Neurology) Vol. 42 Issue 2 Pg. 431-3 (Feb 1992) ISSN: 0028-3878 [Print] United States
• PMID: 1310531 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Sodium Channels

Topics

• Chromosome Mapping
• Female
• Genetic Linkage
• Humans
• Male
• Myotonia Congenita (genetics)
• Pedigree
• Sodium Channels (genetics)