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
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
Tang CY et al.
Journal of Biomedicine & Biotechnology, 2011
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
Papponen H et al.
Muscle & Nerve, 2008
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
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
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
Wollnik B et al.
Human Molecular Genetics, 1997
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
George AL et al.
Human Molecular Genetics, 1994
Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Gao F et al.
Neurology India, 0
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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