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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Autors principals:	Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan
Format:	Artigo
Idioma:	Inglês
Publicat:	Taylor & Francis Group 2024-12-01
Col·lecció:	Channels
Matèries:	Myotonic congenital CLCN1 Thomsen MC Becker MC skeletal muscle channelopathies
Accés en línia:	https://www.tandfonline.com/doi/10.1080/19336950.2024.2349823
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