Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

doi:10.1159/000472351

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Article

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

European journal of human genetics : EJHG - 1 Jan 1994

Plassart E, Reboul J, Rime C S, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C

Abstract excerpt

Hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and PC with myotonia permanens are closely related muscle disorders of genetic origin due to allelic mutations in the muscle sodium channel gene, SCN4A. Seven families of French origin with hyperPP were studied. Five of these...

Topics

Adolescent
Base Sequence
Chi-Square Distribution
Child
Child, Preschool
DNA Mutational Analysis
DNA Primers
DNA, Single-Stranded
Female
France
Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Linkage

Genotype

Humans

Hyperkalemia

Infant

Male

Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 8044656
DOI: 10.1159/000472351

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8044656-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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