Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Anesthesia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to RYR1 gene

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Malignant Hyperthermia

Share to Peritonitis

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 41017341
DOI: 10.1097/EJA.0000000000002283

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.Semantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.Semantic proximity Read ↗

Considerations for diverse RYR1 variants in malignant hyperthermia susceptible patients: a report of two cases.Semantic proximity Read ↗

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.Semantic proximity Read ↗

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

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.Semantic proximity Read ↗

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.Semantic proximity Read ↗

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.Semantic proximity Read ↗

A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article.Semantic proximity Read ↗

Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families.Semantic proximity Read ↗

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.Semantic proximity Read ↗

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.