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Article

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

Nature genetics - 1 Apr 1993

George A L, Crackower M A, Abdalla J A, Hudson A J, Ebers G C

Abstract excerpt

Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC). Single strand conformation polymorphism analysis (SSCP) was used to screen DNA from members of four unrelated pedigrees...

Topics

Amino Acid Sequence
Animals
Base Sequence
Chloride Channels
Chromosome Mapping
Chromosomes, Human, Pair 7
DNA
DNA Primers
Exons
Female
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscles

Mutation

Myotonia Congenita

Pedigree

Polymerase Chain Reaction

Source

Identifiers

PMID: 7981750
DOI: 10.1038/ng0493-305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7981750-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).PMID 7981750Read ↗

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

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.Semantic proximity Read ↗

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.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 ↗

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