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Article

A missense mutation in canine ClC‐1 causes recessive myotonia congenita in the dog1

28 Jul 1999

Abstract excerpt

Myotonia congenita is an inherited disorder of sarcolemmal excitation leading to delayed relaxation of skeletal muscle following contractions. Mutations in a skeletal muscle voltage-dependent chloride channel, CIC-1, have been identified as the molecular genetic basis for the syndrome in humans, and in two well characterized animal models of the disease: the myotonic goat, and the arrested development of righting...

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PMID: 10452529
DOI: 10.1016/s0014-5793(99)00926-6

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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.

Related research

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Research trail→

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A missense mutation in canine ClC‐1 causes recessive myotonia congenita in the dog1PMID 10452529Read ↗

A novel mutation in CLCN1 associated with feline myotonia congenita.Semantic proximity Read ↗

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia CongenitaSemantic proximity Read ↗

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

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.Semantic proximity Read ↗

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.Semantic proximity Read ↗

Mechanism of Inverted Activation of ClC-1 Channels Caused by a Novel Myotonia Congenita MutationSemantic proximity Read ↗

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.Semantic proximity Read ↗

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.Semantic proximity Read ↗

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing MutationsSemantic proximity Read ↗

A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.Semantic proximity Read ↗

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.Semantic proximity Read ↗

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in miceSemantic proximity Read ↗

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