Acetazolamide-responsive myotonia congenita is likely caused by an allelic defect in the human skeletal-muscle sodium channel gene.
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May inform sodium channel testing in acetazolamide-responsive myotonia; leaves open causal confirmation and clinical translation.
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.
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Ptáček et al. (1992) studied this question.
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