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Article

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

1 Jan 2009

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myotonia, and...

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Identifiers

PMID: 20076800
DOI: 10.3988/jcn.2009.5.4.186

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