Clinical and genetic characteristics of myotonia congenita in Chinese population

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 ou...

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Veröffentlicht in:	Channels (Austin, Tex.) Tex.), 2024-12, Vol.18 (1), p.2349823
Hauptverfasser:	He, Yuting, Qiu, Yusen, Xiong, Ying, Shen, Yu, Jiang, Kaiyan, Yi, Hancun, Huang, Pengcheng, Zhu, Yu, Zhu, Min, Zhou, Meihong, Hong, Daojun, Tan, Dandan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Asian People - genetics Becker MC Child China Chloride Channels - genetics CLCN1 East Asian People Electromyography Female Humans Male Mutation Myotonia Congenita - genetics Myotonia Congenita - physiopathology Myotonic congenital Retrospective Studies skeletal muscle channelopathies Thomsen MC Young Adult
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