Linkage of atypical myotonia congenita to a sodium channel locus.
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.
Ptacek
L J
LJ
Department of Neurology, University of Utah School of Medicine, Salt Lake City 84132.
Tawil
R
R
Griggs
R C
RC
Storvick
D
D
Leppert
M
M
D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009224:Myotonia Congenita / Q000235:genetics*; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics*
D015222:Sodium Channels