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
37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y et al.
Channels (austin, Tex.), 2022
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia.
Kim A et al.
Journal of Movement Disorders, 2018
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
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
Tian X et al.
Neurology. Genetics, 2015
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.
Li HF et al.
Neuroscience Bulletin, 2014
Functional studies of the effect of NO donor on human CLCN1 polymorphism/mutants expressed in Xenopus laevis oocytes.
Lin MJ et al.
Biochemical and Biophysical Research Communications, 2008
Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
Lin MJ et al.
Biochemical and Biophysical Research Communications, 2006
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
Jou SB et al.
Journal of Neurology, 2004
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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