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Article

Identification of a novel de novo RYR1 variant associated with malignant hyperthermia : A case report.

European journal of anaesthesiology - 1 Mar 2026

Maino Anthony, Dehaen-Rougelin Claire, Dalmas-Laurent Anne-Frédérique, Guyant-Marechal Lucie, Rendu John, Fauré Julien, Roux-Buisson Nathalie

Abstract excerpt

Malignant hyperthermia (MH) is a severe reaction occurring upon the use of certain pharmacological agents during anaesthesia. The reaction typically includes an uncontrolled increase of body temperature, muscle spasms, tachycardia and hypercapnia. Identifying a genetic aetiology in MH patient allows diagnostic confirmation and genetic screening of relatives at risk. MH susceptibility (MHS) has extensively been...

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Adolescent
Anesthesia
RYR1 gene
Genetic Predisposition to Disease
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Malignant Hyperthermia

Ryanodine Receptor Calcium Release Channel

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Identifiers

PMID: 41017341
DOI: 10.1097/EJA.0000000000002283

Genes

RYR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Identification of a novel de novo RYR1 variant associated with malignant hyperthermia : A case report.PMID 41017341Read ↗

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