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Article

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Human mutation - 1 Aug 2006

Galli Lucia, Orrico Alfredo, Lorenzini Stefania, Censini Stefano, Falciani Michela, Covacci Antonello, Tegazzin Vincenzo, Sorrentino Vincenzo

Abstract excerpt

Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life-threatening hypermetabolic reaction when a susceptible individual is exposed to common volatile anesthetics and depolarizing muscle relaxants. Although MH appears to be genetically heterogeneous, RYR1 is the main candidate for MH susceptibility. However, since molecular analysis is generally limited to exons...

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Source

Identifiers

PMID: 16835904
DOI: 10.1002/humu.9442

Genes

RYR1

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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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.PMID 16835904Read ↗

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