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Article

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

Clinical chemistry - 1 May 2003

Tammaro Angela, Bracco Adele, Cozzolino Santolo, Esposito Maria, Di Martino Antonietta, Savoia Gennaro, Zeuli Laura, Piluso Giulio, Aurino Stefania, Nigro Vincenzo

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a fatal autosomal dominant pharmacogenetic disorder characterized by skeletal muscle hypertonicity that causes a sudden increase in body temperature after exposure to common anesthetic agents. The disease is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of the cases. To...

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Identifiers

PMID: 12709367
DOI: 10.1373/49.5.761

Genes

RYR1

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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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Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.PMID 12709367Read ↗

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