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

The skeletal muscle sodium and chloride channel diseases.

Brain : a journal of neurology - 1 Apr 1995

Hudson A J, Ebers G C, Bulman D E

Abstract excerpt

The cause of several familial muscular diseases have recently been linked to mutations within skeletal muscle sodium and chloride channel genes. Thomsen's and Becker's diseases are autosomal dominant and recessive, respectively, and are caused by at least seven different mutations in the CLCN1 (ClC-1) skeletal muscle chloride channel gene on chromosome 7q35. Hyperkalaemic periodic paralysis, paramyotonia...

Topics

Animals
Chloride Channels
Female
Humans
Male
Mice
Mutation
Myotonia
Paralyses, Familial Periodic
Sodium Channels

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7735894
DOI: 10.1093/brain/118.2.547

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7735894-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 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 · 12 closest

The skeletal muscle sodium and chloride channel diseases.PMID 7735894Read ↗

Sodium Channelopathies of Skeletal Muscle.Semantic proximity Read ↗

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.Semantic proximity Read ↗

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium ChannelopathySemantic proximity Read ↗

Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach.Semantic proximity Read ↗

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.Semantic proximity Read ↗

Ion channel mutations and diseases of skeletal muscle.Semantic proximity Read ↗

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.Semantic proximity Read ↗

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.Semantic proximity Read ↗

Sodium channel mutations and disorders of excitation in human skeletal muscle.Semantic proximity Read ↗

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.Semantic proximity Read ↗

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.Semantic proximity Read ↗

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.Semantic proximity Read ↗

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