Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

doi:10.1093/hmg/6.5.805

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Article

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Human molecular genetics - 1 May 1997

Wollnik B, Kubisch C, Steinmeyer K, Pusch M

Abstract excerpt

Mutations in the muscular voltage-dependent Cl-channel, CIC-1, lead to recessive and dominant myotonia. Here we analyse the effects of one dominant (G200R) and three recessive (Y150C, Y261C, and M485V) mutations after functional expression in Xenopus oocytes. Glycine 200 is a highly conserved ami...

Topics

Amino Acid Sequence
Animals
Chloride Channels
Electrophysiology
Female
Genes, Dominant
Genes, Recessive
Humans
Molecular Sequence Data
Muscle Proteins
Mutation
Myotonia
Oocytes
Patch-Clamp Techniques
Recombinant Proteins
Xenopus

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Open in PubMed

Identifiers

PMID: 9158157
DOI: 10.1093/hmg/6.5.805

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9158157-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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