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Article

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

European journal of human genetics : EJHG - 1 Sept 2004

Dunø Morten, Colding-Jørgensen Eskild, Grunnet Morten, Jespersen Thomas, Vissing John, Schwartz Marianne

Abstract excerpt

Mutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker's myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen's myotonia, is assumed to be a consequence of a dominant-negative effect. However, a subset of CLCN1 mutations can cause both recessive and...

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Source

Identifiers

PMID: 15162127
DOI: 10.1038/sj.ejhg.5201218

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.PMID 15162127Read ↗

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

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.Semantic proximity Read ↗

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.Semantic proximity Read ↗

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.Semantic proximity Read ↗

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.Semantic proximity Read ↗

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.Semantic proximity Read ↗

Phenotypic variability in myotonia congenita.Semantic proximity Read ↗

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