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Article

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.

American journal of medical genetics - 26 Feb 1998

Moslehi R, Langlois S, Yam I, Friedman J M

Abstract excerpt

Hyperkalemic periodic paralysis (HPP) is caused by mutations of the adult skeletal muscle sodium channel (SCN4A) gene on chromosome 17. Malignant hyperthermia (MH) is a genetically heterogeneous autosomal-dominant disorder occurring in association with various neuromuscular diseases or without other apparent abnormalities. In some families, MH is associated with mutations of a calcium release channel (RYR1) gene...

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Source

Identifiers

PMID: 9508059

Genes

RYR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.PMID 9508059Read ↗

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.Semantic proximity Read ↗

Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene.Semantic proximity Read ↗

Malignant hyperthermia--a large kindred linked to the RYR1 gene.Semantic proximity Read ↗

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.Semantic proximity Read ↗

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.Semantic proximity Read ↗

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q.Semantic proximity Read ↗

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.Semantic proximity Read ↗

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.Semantic proximity Read ↗

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.Semantic proximity Read ↗

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.Semantic proximity Read ↗

Genetics of malignant hyperthermia.Semantic proximity Read ↗

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.Semantic proximity Read ↗

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