The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

INTRODUCTION: Non-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort. METHODS: We reviewed the clinical manifestations, laboratory re...

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Detalles Bibliográficos
Autores principales: Wang, Quanquan, Zhao, Zhe, Shen, Hongrui, Bing, Qi, Li, Nan, Hu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957821/
https://www.ncbi.nlm.nih.gov/pubmed/35350395
http://dx.doi.org/10.3389/fneur.2022.830707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957821/
https://www.ncbi.nlm.nih.gov/pubmed/35350395
http://dx.doi.org/10.3389/fneur.2022.830707

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