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
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Öz Tunçer G et al.
Journal of Neuromuscular Diseases, 2023
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
34529042 (PubMed )
Supplement: awab344_supplementary_data.pdf
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
Özgün N et al.
The Turkish Journal of Pediatrics, 2020
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
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