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Article

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

Human mutation - 1 Aug 2002

Robinson Rachel L, Brooks Collin, Brown Sarah L, Ellis F Richard, Halsall P Jane, Quinnell Rupert J, Shaw Marie-Anne, Hopkins Philip M

Abstract excerpt

Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant disorders of skeletal muscle. Susceptibility to MH is only apparent after exposure to volatile anesthetics and/or depolarizing muscle relaxants. CCD patients present with diffuse muscular weakness but are also at risk of MH. Mutations in RYR1 (19q13.1), encoding a skeletal muscle calcium release channel (ryanodine receptor), account...

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Source

Identifiers

PMID: 12124989
DOI: 10.1002/humu.10098

Genes

RYR1

Variants

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

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Research trail→

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RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.PMID 12124989Read ↗

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

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

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.Semantic proximity Read ↗

Genetic variation in RYR1 and malignant hyperthermia phenotypes.Semantic proximity Read ↗

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Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.Semantic proximity Read ↗

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