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Article

Refined genetic localization for central core disease.

American journal of human genetics - 1 Feb 1993

Mulley J C, Kozman H M, Phillips H A, Gedeon A K, McCure J A, Iles D E, Gregg R G, Hogan K, Couch F J, MacLennan D H

Abstract excerpt

Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of 11.8, with no recombination. Mutation within RYR1 is responsible for MHS, and RYR1 is also a...

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Identifiers

PMID: 8430700
PMCID: PMC1682183

Genes

RYR1

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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.

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Refined genetic localization for central core disease.PMID 8430700Read ↗

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

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

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

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

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

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Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.Semantic proximity Read ↗

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Central core disease: clinical, pathological, and genetic features.Semantic proximity Read ↗

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