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Article

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Channels (Austin, Tex.) - 1 Dec 2022

Li Yifan, Li Mao, Wang Zhenfu, Yang Fei, Wang Hongfen, Bai Xiujuan, Sun Bo, Chen Siyu, Huang Xusheng

Abstract excerpt

Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle. Our study reported the clinical and molecular characteristics of six patients with MC and systematically review the literature on Chinese people. We retrospectively analyzed demographics, clinical features, family history,...

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Identifiers

PMID: 35170402
DOI: 10.1080/19336950.2022.2041292
PMCID: PMC8855856

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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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