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Article

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.

Journal of biomedicine & biotechnology - 1 Jan 2011

Tang Chih-Yung, Chen Tsung-Yu

Abstract excerpt

The CLC-1 chloride channel, a member of the CLC-channel/transporter family, plays important roles for the physiological functions of skeletal muscles. The opening of this chloride channel is voltage dependent and is also regulated by protons and chloride ions. Mutations of the gene encoding CLC-1 result in a genetic disease, myotonia congenita, which can be inherited as an autosmal dominant (Thomsen type) or an...

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Identifiers

PMID: 22187529
DOI: 10.1155/2011/685328
PMCID: PMC3237021

Genes

CLC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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