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

doi:10.1093/hmg/3.7.1123

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Article

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

Human molecular genetics - 1 Jul 1994

Heine R, George A L, Pika U, Deymeer F, Rüdel R, Lehmann-Horn F

Abstract excerpt

Recessive myotonia congenita (Becker) is genetically linked to HUMCLC, the gene encoding the muscular chloride channel, localized on chromosome 7q35. Three point mutations have so far been reported in HUMCLC, one causing recessive Becker-type myotonia, the others causing the clinically similar Thomsen-type myotonia, which is inherited as a dominant trait. We report a homozygous patient having a 4 base pair...

Topics

Amino Acid Sequence
Child, Preschool
Chloride Channels
DNA Mutational Analysis
Female
Genes
Genes, Recessive
Humans
Male
Models, Molecular
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Proteins

Mutation

Myotonia Congenita

Pedigree

Polymerase Chain Reaction

Protein Conformation

Sequence Alignment

Source

Open in PubMed

Identifiers

PMID: 7981681
DOI: 10.1093/hmg/3.7.1123

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7981681-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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