Discover Community Create You

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

A novel SCN4A mutation causing myotonia aggravated by cold and potassium

1 Jan 1993

Abstract excerpt

The single strand conformation polymorphism (SSCP) technique was used to screen genomic DNA of a family with myotonia aggravated by cold, potassium loading and suxamethonium, but without muscle weakness. An aberrant band was found in exon 24 of SCN4A, the gene encoding the adult skeletal muscle sodium channel alpha-subunit. DNA sequencing led to the detection of a G-to-A transition of cDNA nucleotide 4765...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiac electrophysiology and arrhythmias
Share to Cardiomyopathy and Myosin Studies
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8242056
DOI: 10.1093/hmg/2.9.1349

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel SCN4A mutation causing myotonia aggravated by cold and potassiumPMID 8242056Read ↗

A C‐terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationSemantic proximity Read ↗

A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.Semantic proximity Read ↗

Analysis of a rare pathogenic variant of the SCN4A gene (c.4307T>C, L1436P): from clinic to patch-clampSemantic 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 ↗

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.Semantic proximity Read ↗

Familial cramp due to potassium-aggravated myotonia.Semantic proximity Read ↗

Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis MutationSemantic proximity Read ↗

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.Semantic proximity Read ↗

A novel sodium channel mutation in a family with hypokalemic periodic paralysis.Semantic proximity Read ↗

Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.Semantic proximity Read ↗

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.Semantic proximity Read ↗

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