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Article

Functional consequences of chloride channel gene ( <i>CLCN1) mutations causing myotonia congenita</i>

22 Feb 2000

Abstract excerpt

OBJECTIVE: To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita. BACKGROUND: Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel. In order to understand the molecular basis of this inherited disease, it is important to determine the...

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PMID: 10690989
DOI: 10.1212/wnl.54.4.937

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