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Article

Clinical and genetic characteristics of myotonia congenita in Chinese population.

Channels (Austin, Tex.) - 1 Dec 2024

He Yuting, Qiu Yusen, Xiong Ying, Shen Yu, Jiang Kaiyan, Yi Hancun, Huang Pengcheng, Zhu Yu, Zhu Min, Zhou Meihong, Hong Daojun, Tan Dandan

Abstract excerpt

Myotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC). The clinical data and auxiliary examinations of MC patients in our clinic were retrospectively collected. Electromyography was performed in 11 patients and available family members....

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Identifiers

PMID: 38720415
DOI: 10.1080/19336950.2024.2349823
PMCID: PMC11086022

Genes

CLCN1

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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