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Article

[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].

Der Anaesthesist - 1 Sept 2014

Wolak S, Rücker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, Tzanova I

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a life-threatening, acute pharmacogenetic disorder mostly due to heterozygous mutations in the ryanodin receptor 1 (RYR1) gene. Diagnosis is generally confirmed by the in vitro contracture test (IVCT). In this study the genotype-phenotype correlation was analyzed and the presumed prevalence of MH is discussed. PATIENTS AND METHODS: After the diagnosis of MH...

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Source

Identifiers

PMID: 25047158
DOI: 10.1007/s00101-014-2351-6

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.

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