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Article

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.

The Journal of physiology - 1 Aug 2012

Weinberger Sebastian, Wojciechowski Daniel, Sternberg Damien, Lehmann-Horn Frank, Jurkat-Rott Karin, Becher Toni, Begemann Birgit, Fahlke Christoph, Fischer Martin

Abstract excerpt

Myotonia congenita is a genetic condition that is caused by mutations in the muscle chloride channel gene CLCN1 and characterized by delayed muscle relaxation and muscle stiffness. We here investigate the functional consequences of two novel disease-causing missense mutations, C277R and C277Y, using heterologous expression in HEK293T cells and patch clamp recording. Both mutations reduce macroscopic anion...

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Identifiers

PMID: 22641783
DOI: 10.1113/jphysiol.2012.232785
PMCID: PMC3547262

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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