Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus

Louis J. Ptacek, James Trimmer, William S. Agnew, John W. Roberts, Jack H. Petajan, Mark Leppert

Research output: Contribution to journalArticle

117 Scopus citations

Abstract

Paramyotonia congenita (PC), an autosomal dominant muscle disease, shares some clinical and electrophysiological similarities with another myotonic muscle disorder, hyperkalemic periodic paralysis (HYPP). However, clinical and electrophysiologic differences allow differentiation of the two disorders. The HYPP locus was recently shown to be linked to a skeletal muscle sodium-channel gene probe. We now report that PC maps to the same locus (LOD score 4.4, θ = 0 at assumed penetrance of .95). These linkage results, coupled with physiological data demonstrating abnormal sodium-channel function in patients with PC, implicate a sodium-channel gene as an important candidate for the site of mutation responsible for PC. Furthermore, this is strong evidence for the hypothesis that PC and HYPP are allelic disorders.

Original languageEnglish (US)
Pages (from-to)851-854
Number of pages4
JournalAmerican Journal of Human Genetics
Volume49
Issue number4
StatePublished - Oct 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Ptacek, L. J., Trimmer, J., Agnew, W. S., Roberts, J. W., Petajan, J. H., & Leppert, M. (1991). Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. American Journal of Human Genetics, 49(4), 851-854.