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Article

Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.

The Journal of biological chemistry - 25 Feb 1994

Gronemeier M, Condie A, Prosser J, Steinmeyer K, Jentsch T J, Jockusch H

Abstract excerpt

In mature vertebrate muscle, the chloride channel Clc-1 is necessary for the stabilization of the resting potential. Its functional defect leads to the disease myotonia. The ADR mouse (phenotype ADR, genotype adr/adr) is an animal model for human myotonias. The adr gene is a member of a family of...

Topics

Amino Acid Sequence
Animals
Base Sequence
Chloride Channels
DNA, Complementary
Humans
Mice
Mice, Inbred Strains
Molecular Sequence Data
Muscles
Mutation
Myotonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Homology, Amino Acid

Source

Identifiers

PMID: 8119941

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8119941-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.PMID 8119941Read ↗

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