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Article

Myotonias due to CLC-1 chloride channel mutations.

Society of General Physiologists series - 1 Jan 1995

Jentsch T J, Lorenz C, Pusch M, Steinmeyer K

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Share to Chloride Channels
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7676320

Genes

CLC

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Myotonias due to CLC-1 chloride channel mutations.PMID 7676320Read ↗

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Myotonia caused by mutations in the muscle chloride channel gene CLCN1.Semantic proximity Read ↗

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ClC-1 chloride channels: state-of-the-art research and future challengesSemantic proximity Read ↗

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.Semantic proximity Read ↗

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.Semantic proximity Read ↗

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.Semantic proximity Read ↗

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.Semantic proximity Read ↗

Gene symbol: CLCN1. Disease: Myotonia congenita.Semantic proximity Read ↗

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.Semantic proximity Read ↗

Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.Semantic proximity Read ↗

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