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 evaluation and cellular electrophysiology of a recessive CLCN1 patient.
Lucchiari S et al.
Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2013
Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
Tang CY et al.
Journal of Biomedicine & Biotechnology, 2011
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
Simpson BJ et al.
Human Mutation, 2004
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
Zhang J et al.
Neurology, 2000
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch C et al.
Human Molecular Genetics, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
George AL et al.
Human Molecular Genetics, 1994
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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