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Article

A novel alteration of muscle chloride channel gating in myotonia levior.

The Journal of physiology - 1 Dec 2002

Ryan Aisling, Rüdel Reinhardt, Kuchenbecker Maya, Fahlke Christoph

Abstract excerpt

Mutations in the voltage-dependent skeletal muscle chloride channel, ClC-1, result in dominant or recessive myotonia congenita. The Q552R mutation causes a variant of dominant myotonia with a milder phenotype, myotonia levior. To characterise the functional properties of this mutation, homodimeric mutant and heterodimeric wild-type (WT) mutant channels were expressed in tsA201 cells and studied using the...

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Source

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Identifiers

PMID: 12456816
DOI: 10.1113/jphysiol.2002.027037
PMCID: PMC2290694

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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