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Article

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Channels (Austin, Tex.) - 2 Jan 2017

Yang Xinglong, Jia Hua, An Ran, Xi Jing, Xu Yanming

Abstract excerpt

Myotonia congenita (MC), paramyotonia congenita (PC) and sodium channel myotonias(SCM) were belonged to Non-dystrophic myotonias, in which muscle relaxation is delayed after voluntary or evoked contraction. These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the...

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Identifiers

PMID: 27415035
DOI: 10.1080/19336950.2016.1212140
PMCID: PMC5279883

Genes

CLCN1

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