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

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Human mutation - 1 Nov 2005

Monnier Nicole, Kozak-Ribbens Geneviève, Krivosic-Horber Renée, Nivoche Yves, Qi Dong, Kraev Natasha, Loke Julian, Sharma Parveen, Tegazzin Vincenzo, Figarella-Branger Dominique, Roméro Norma, Mezin Paulette, Bendahan David, Payen Jean-François, Depret Thierry, Maclennan David H, Lunardi Joël

Abstract excerpt

Malignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic disorder caused by an impairment of skeletal muscle calcium homeostasis in response to triggering agents. While in vitro contracture testing (IVCT) is the gold standard for defining MHS, molecular analysis is increasingly used to diagnosis MHS. Mutations associated with MHS have been reported in two genes: RYR1 and CACNA1S. Mutations in...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Calcium Channels

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

Share to Calcium Channels, L-Type

Share to Malignant Hyperthermia

Share to Muscle Contraction

Share to Muscle, Skeletal

Share to Protein Structure, Tertiary

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 16163667
DOI: 10.1002/humu.20231

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.PMID 16163667Read ↗

Mutations in RYR1 in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.Semantic proximity Read ↗

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Semantic proximity Read ↗

Ryanodine receptor mutations in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Novel RYR1 Variant (p.Gln474His) in Malignant Hyperthermia Susceptibility.Semantic proximity Read ↗

Using exome data to identify malignant hyperthermia susceptibility mutations.Semantic proximity Read ↗

Malignant hyperthermia and central core disease causative mutations in Swedish patients.Semantic proximity Read ↗

Core myopathies and risk of malignant hyperthermia.Semantic proximity Read ↗

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.Semantic proximity Read ↗

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.Semantic proximity Read ↗

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

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