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

Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia.

Muscle & nerve - 1 Sept 2004

Aleman Monica, Riehl Joyce, Aldridge Brian M, Lecouteur Richard A, Stott Jeffrey L, Pessah Isaac N

Abstract excerpt

Equine malignant hyperthermia MH has been suspected but never genetically confirmed. In this study, we investigated whether mutations in a candidate gene, RyR1, were associated with MH in two clinically affected horses. RyR1 gene sequences revealed polymorphisms in exons 15, 17, and 46 in WTRyR1 and MHRyR1 horses with one derived amino acid change in MHRyR1 exon 46, R2454G. The MHRyR1 horses were genetically...

Read the complete abstract on PubMed

Topics

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

Share to Histocytochemistry
Share to Horse Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Horses

Share to Malignant Hyperthermia

Share to Muscle, Skeletal

Share to Protein Binding

Share to Protein Isoforms

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 15318347
DOI: 10.1002/mus.20084

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia.PMID 15318347Read ↗

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility.Semantic proximity Read ↗

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.Semantic proximity Read ↗

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

A rapid detection method for the ryanodine receptor 1 (C7360G) mutation in Quarter Horses.Semantic proximity Read ↗

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.Semantic proximity Read ↗

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Semantic proximity Read ↗

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.Semantic proximity Read ↗

Novel ryanodine receptor 1 (RYR1) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing.Semantic proximity Read ↗

Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.Semantic proximity Read ↗

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

Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.Semantic proximity Read ↗

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.Semantic proximity Read ↗

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