Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

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Article

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

American journal of human genetics - 1 Jun 1992

Deufel T, Golla A, Iles D, Meindl A, Meitinger T, Schindelhauer D, DeVries A, Pongratz D, MacLennan D H, Johnson K J

Abstract excerpt

A locus for malignant hyperthermia susceptibility (MHS) has been localized on chromosome 19q12-13.2, while at the same time the gene encoding the skeletal muscle ryanodine receptor (RYR1) also has been mapped to this region and has been found to be tightly linked to MHS. RYR1 was consequently postulated as the candidate for the molecular defect causing MHS, and a point mutation in the gene has now been identified...

Topics

Adult
Child
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 19
Female
Genetic Linkage
Genetic Markers
Genetic Predisposition to Disease
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Malignant Hyperthermia

Muscle Contraction

Muscles

Mutation

Pedigree

Receptors, Cholinergic

Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 1598899
PMCID: PMC1682579

Genes

RYR1
APOC2
BCL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1598899-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Related research

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Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.PMID 1598899Read ↗

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility.Semantic proximity Read ↗

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

Genetics of malignant hyperthermia.Semantic proximity Read ↗

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.Semantic proximity Read ↗

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

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.Semantic proximity Read ↗

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

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.Semantic proximity Read ↗

Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.Semantic proximity Read ↗

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 ↗

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.Semantic proximity Read ↗

The genetics of malignant hyperthermia.Semantic proximity Read ↗

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