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Article

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

Genomics - 1 Jul 1991

Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Müller C R

Abstract excerpt

Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic...

Topics

Alleles
Chromosome Mapping
Chromosomes, Human, Pair 19
DNA Probes
Genes
Genetic Markers
Humans
Lod Score
Malignant Hyperthermia
Muscular Diseases
Receptors, Cholinergic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 1889818
DOI: 10.1016/0888-7543(91)90461-m

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1889818-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Click a neighbor to travelStep 1 · 12 closest

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.PMID 1889818Read ↗

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

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 ↗

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

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.Semantic proximity Read ↗

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

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

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.Semantic proximity Read ↗

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.Semantic proximity Read ↗

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