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Neuromuscul Disord. 2002 Aug;12(6):533-43.

An expanding view for the molecular basis of familial periodic paralysis.

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  • 1Department of Neurology, Massachusetts General Hospital/Wellman 423, 50 Blossom Street, Boston, MA 02114, USA. cannon@helix.mgh.harvard.edu

Abstract

The periodic paralyses are rare disorders of skeletal muscle characterized by episodic attacks of weakness due to intermittent failure of electrical excitability. Familial forms of periodic paralysis are all caused by mutations in genes coding for voltage-gated ion channels. New discoveries in the past 2 years have broadened our views on the diversity of phenotypes produced by mutations of a single channel gene and have led to the identification of potassium channel mutations, in addition to those previously found in sodium and calcium channels. This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis.

PMID:
12117476
[PubMed - indexed for MEDLINE]
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