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Article

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Molecular genetics and metabolism - 1 Jan 2000

Vladutiu Georgirene D, Isackson Paul J, Kaufman Kenneth, Harley John B, Cobb Beth, Christopher-Stine Lisa, Wortmann Robert L

Abstract excerpt

Malignant hyperthermia (MH) is a pharmacogenetic, autosomal dominantly inherited disorder of skeletal muscle triggered by volatile anesthetics and infrequently by extreme exertion and heat exposure. MH has variable penetrance with an incidence ranging from 1 in 5000 to 1 in 50,000-100,000 anesthesias. Mutations in the ryanodine receptor gene, RYR1, are found in 50-70% of cases. We hypothesized that a portion of...

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Source

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Identifiers

PMID: 21795085
DOI: 10.1016/j.ymgme.2011.07.001
PMCID: PMC3171598

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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