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
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
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.
Altamura C et al.
Frontiers in Neurology, 2020
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
Vindas-Smith R et al.
Human Mutation, 2016
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D et al.
Brain : a Journal of Neurology, 2007
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