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Article

Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.

Acta neurologica Taiwanica - 1 Dec 2007

Chang Ting-Yu, Kuo Hung-Chou, Hsiao Kuang-Ming, Huang Chin-Chang

Abstract excerpt

BACKGROUND: Myotonia congenita (MC), whether inherited in autosomal dominant or recessive form, is caused by mutation of CLCN1 on chromosome 7 and associated with impaired skeletal muscle relaxation after contraction. The basic pathophysiology is the reduction of chloride conductance in skeletal muscles caused by various molecular mechanisms. The cause of the wide phenotypic variability in both dominant and...

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Source

Identifiers

PMID: 18220014

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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