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Article

Increasing the number of diagnostic mutations in malignant hyperthermia.

Human mutation - 1 Apr 2009

Levano Soledad, Vukcevic Mirko, Singer Martine, Matter Anja, Treves Susan, Urwyler Albert, Girard Thierry

Abstract excerpt

Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium homeostasis in skeletal muscle in response to triggering agents. Today, genetic investigations on ryanodine receptor type 1 (RYR1) gene and alpha1 subunit of the dihydropyridine receptor (DHPR) (CACNA1S) gene have improved the procedures associated with MH diagnosis. In approximately 50% of MH cases a causative RYR1...

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Source

Identifiers

PMID: 19191329
DOI: 10.1002/humu.20878

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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