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Article

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

Human mutation - 1 Oct 2001

Girard T, Urwyler A, Censier K, Mueller C R, Zorzato F, Treves S

Abstract excerpt

Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease, triggered by inhalative anesthetics or depolarizing muscle relaxants in genetically predisposed individuals. Linkage analysis have revealed MH to be a heterogenetic disease with about 50% of MH families linked to the locus of the ryanodine receptor calcium channel (RYR1). We investigated the frequency of the 23 published MH linked RYR1...

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Source

Identifiers

PMID: 11668625
DOI: 10.1002/humu.1203

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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