Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Andrea I. McClatchey, Diane McKenna-Yasek, Didier Cros, Hilary G. Worthen, Ralph W. Kuncl, Shari M. Desilva, David R. Cornblath, James F. Gusella, Robert H. Brown

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the skeletal muscle sodium channel gene (SCN4A) have been described in paramyotonia congenita (PMC) and hyperkalaemic periodic paralysis (HPP). We have found two mutations in SCN4A which affect regions of the sodium channel not previously associated with a disease phenotype. Furthermore, affected family members display an unusual mixture of clinical features reminiscent of PMC, HPP and of a third disorder, myotonia congenita (MC). The highly variable individual expression of these symptoms, including in some cases apparent non–penetrance, implies the existence of modifying factors. Mutations in SCN4A can produce a broad range of phenotypes in muscle diseases characterized by episodic abnormalities of membrane excitability.

Original languageEnglish (US)
Pages (from-to)148-152
Number of pages5
JournalNature genetics
Volume2
Issue number2
DOIs
StatePublished - Oct 1992

ASJC Scopus subject areas

  • Genetics

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