Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature
Author:
Affiliation:
1. Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, P.R. China
Publisher
Informa UK Limited
Subject
Biochemistry,Biophysics
Link
https://www.tandfonline.com/doi/pdf/10.1080/19336950.2016.1212140
Reference47 articles.
1. ClC-1 Chloride Channel Mutations in Myotonia Congenita: Variable Penetrance of Mutations Shifting the Voltage Dependence
2. Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
3. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment
4. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels
5. Paramyotonia congenita: From clinical diagnosis toin silicoprotein modeling analysis
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1. Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations;Muscle & Nerve;2022-10-04
2. Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis;Frontiers in Neurology;2022-08-23
3. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study;Journal of Neurology;2022-07-30
4. Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people;Medicine;2022-07-22
5. The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia;Frontiers in Neurology;2022-03-08
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