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Article

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.

Clinical genetics - 1 Dec 1996

Fagerlund T H, Islander G, Ranklev-Twetman E, Berg K

Abstract excerpt

Malignant hyperthermia (MH) susceptibility is considered a subclinical myopathy or a pharmacogenetic trait, and is believed to be closely associated with central core disease (CCD). Data support the notion that MH susceptibility is heterogeneous, with the ryanodine receptor I (RYR1) locus on chro...

Topics

Alleles
Caffeine
Calcium Channels
Child, Preschool
Chromosomes, Human, Pair 19
Female
Genetic Linkage
Genetic Markers
Halothane
Humans
Male
Malignant Hyperthermia
Muscle Contraction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Proteins

Myopathies, Nemaline

Pedigree

Recombination, Genetic

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 9147872
DOI: 10.1111/j.1399-0004.1996.tb02711.x

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9147872-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Click a neighbor to travelStep 1 · 12 closest

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.PMID 9147872Read ↗

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

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.Semantic proximity Read ↗

Refined genetic localization for central core disease.Semantic proximity Read ↗

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

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Semantic proximity Read ↗

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Semantic proximity Read ↗

Mutations in RYR1 in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Ryanodine receptor mutations in malignant hyperthermia and central core disease.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 ↗

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.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 ↗

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