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Article

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

Journal of medical genetics - 1 Nov 1993

Koch M C, Ricker K, Otto M, Wolf F, Zoll B, Lorenz C, Steinmeyer K, Jentsch T J

Abstract excerpt

Generalised myotonia Becker (GM) is an autosomal recessively inherited muscle disorder. Affected subjects exhibit myotonic muscle stiffness in all skeletal muscles with marked hypertrophy in the legs. A transient muscle weakness is particularly pronounced in the arms and hands and is a typical symptom of the disorder. Recently, we showed complete linkage of the disorder GM to the gene (CLCN1) coding for the...

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Source

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Identifiers

PMID: 8301644
DOI: 10.1136/jmg.30.11.914
PMCID: PMC1016598

Genes

CLCN1
CLC

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).PMID 8301644Read ↗

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia CongenitaSemantic proximity Read ↗

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.Semantic proximity Read ↗

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.Semantic proximity Read ↗

Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.Semantic proximity Read ↗

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.Semantic proximity Read ↗

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.Semantic proximity Read ↗

From clinical to molecular diagnosis: relevance of the MLPA in one case of recessive myotonia congenita – case reportSemantic 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 ↗

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