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Article

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

18 Mar 1997

Abstract excerpt

Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene (CLCN1, 7q35). Here, we report that a mutation predicting the substitution of Gly 230 by glutamic acid (G230E) between segments D3 and D4 dramatically alters the pore properties of a recombinant human muscle Cl- channel (hCIC-1) expressed in a mammalian cell line (tsA201). The...

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Identifiers

PMID: 9122265
DOI: 10.1073/pnas.94.6.2729

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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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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channelPMID 9122265Read ↗

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