Associated Papers
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
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
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
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
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
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
Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.
Fialho D et al.
Neuromuscular Disorders : Nmd, 2008
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D et al.
Brain : a Journal of Neurology, 2007
Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Gao F et al.
Neurology India, 0
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