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The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, paramyotonia congenita, myotonia coexists with cold-induced paralysis. Electrophysiological studies have demonstrated variant-specific abnormalities in skeletal muscle membrane sodium conductance. We tested the hypothesis that hyperkalemic periodic paralysis (without myotonia) and paramyotonia congenita are tightly linked to the tetrodotoxin-sensitive adult skeletal muscle sodium channel gene on chromosome 17q23-25 in two large pedigrees. The DNA polymorphisms detected in the growth hormone skeletal muscle sodium channel complex (GH1-SCN4A) and by flanking polymorphic markers (D17S74 and D17S40) demonstrated no recombinants between the disease phenotypes and this complex. Phenotypic variation in the hereditary hyperkalemic periodic paralyses may result from allelic heterogeneity at the tetrodotoxin-sensitive adult skeletal muscle sodium channel locus.

Original publication

DOI

10.1002/ana.410300610

Type

Journal article

Journal

Ann Neurol

Publication Date

12/1991

Volume

30

Pages

810 - 816

Keywords

Adult, Chromosomes, Human, Pair 17, Female, Genes, Humans, Hyperkalemia, Lod Score, Male, Muscle Proteins, Muscles, Myotonia Congenita, Paralyses, Familial Periodic, Pedigree, Phenotype, Polymorphism, Restriction Fragment Length, Sodium Channels, Tetrodotoxin