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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 chromosome 19 being one locus harboring a gene that can cause MH susceptibility. The gene for CCD is believed to reside in...

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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 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

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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