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

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

IntroductionNon-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.MethodsWe reviewed the clinical manifestations, laboratory results...

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Bibliographic Details
Main Authors: Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Neurology
Subjects:
non-dystrophic myotonia
myotonia congenita
paramyotonia congenita
CLCN1
SCN4A
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.830707/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.830707/full

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