Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 sy...

Topics

Alleles
Chloride Channels
Chromosomes, Human, Pair 7
DNA Mutational Analysis
Gene Frequency
Genes
Genes, Dominant
Genes, Recessive
Humans
Lod Score
Myotonia
Myotonia Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Prevalence

Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

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

Genes

CLCN1
CLC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8301644-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

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 ↗

⌁Select a neighboring publication to make it the new centre.