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

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 r...

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Detalles Bibliográficos
Autores principales: Li, Yifan, Li, Mao, Wang, Zhenfu, Yang, Fei, Wang, Hongfen, Bai, Xiujuan, Sun, Bo, Chen, Siyu, Huang, Xusheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855856/
https://www.ncbi.nlm.nih.gov/pubmed/35170402
http://dx.doi.org/10.1080/19336950.2022.2041292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855856/
https://www.ncbi.nlm.nih.gov/pubmed/35170402
http://dx.doi.org/10.1080/19336950.2022.2041292

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