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
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence.
Jehasse K et al.
Molecular Genetics & Genomic Medicine, 2021
Skeletal muscle ClC-1 chloride channels in health and diseases.
Altamura C et al.
Pflugers Archiv : European Journal of Physiology, 2020
Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.
Jeng CJ et al.
Frontiers in Neurology, 2020
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.
Altamura C et al.
Frontiers in Neurology, 2020
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia.
Gaitán-Peñas H et al.
Muscle & Nerve, 2018
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
Vindas-Smith R et al.
Human Mutation, 2016
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
Morales F et al.
Revista De Biologia Tropical, 2008
Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Morales F et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: F8. Disease: haemophilia A.
Garcia-Lozano JR
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: F8. Disease: haemophilia A.
Garcia-Lozano JR
Human Genetics, 2007
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