Associated Papers
Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.
Wang X et al.
Italian Journal of Pediatrics, 2025
Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y et al.
Channels (austin, Tex.), 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Öz Tunçer G et al.
Journal of Neuromuscular Diseases, 2023
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y et al.
Channels (austin, Tex.), 2022
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng YX et al.
Medicine, 2022
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K et al.
Brain : a Journal of Neurology, 2022
The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.
Wang Q et al.
Frontiers in Neurology, 2022
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R et al.
Neuromuscular Disorders : Nmd, 2020
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Yang X et al.
Channels (austin, Tex.), 2017
The Overlap between Fibromyalgia Syndrome and Myotonia Congenita.
Nam TS et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Myotonia congenita: novel mutations in CLCN1 gene.
Liu XL et al.
Channels (austin, Tex.), 2015
[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].
Sasaki R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D et al.
Plos One, 2013
Clinical Characteristics and Analysis of CLCN1 in Patients with "EMG Disease".
Nam TS et al.
Journal of Clinical Neurology (seoul, Korea), 2012
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Gao F et al.
Neurology India, 0