Refined genetic localization for central core disease.

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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...

Topics

Alleles
Child
Chromosome Mapping
Chromosomes, Human, Pair 19
Female
Genes, Dominant
Genetic Linkage
Humans
Male
Malignant Hyperthermia
Meiosis
Muscular Diseases
Pedigree
Phenotype
Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 8430700
PMCID: PMC1682183

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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