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Article

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Brain : a journal of neurology - 1 Dec 2007

Fialho D, Schorge S, Pucovska U, Davies N P, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis M B, Kullmann D M, Hanna M G

Abstract excerpt

Myotonia congenita (MC) is the commonest genetic skeletal muscle ion channelopathy. It is caused by mutations in CLCN1 on chromosome 7q35, which alter the function of the major skeletal muscle voltage-gated chloride channel. Dominant and recessive forms of the disease exist. We have undertaken a clinical, genetic and molecular expression study based upon a large cohort of over 300 UK patients. In an initial...

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Source

Identifiers

PMID: 17932099
DOI: 10.1093/brain/awm248

Genes

CLCN1
CLC

Provenance

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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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.PMID 17932099Read ↗

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