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Article

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

Neuron - 1 Dec 1995

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

Abstract excerpt

Autosomal dominant myotonia congenita (Thomsen's disease) is caused by mutations in the muscle chloride channel CIC-1. Several point mutations found in affected families (I29OM, R317Q, P480L, and Q552R) dramatically shift gating to positive voltages in mutant/WT heterooligomeric channels, and whe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8845168
DOI: 10.1016/0896-6273(95)90023-3

Genes

CIC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8845168-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.PMID 8845168Read ↗

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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 ↗

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