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

Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.

Clinical genetics - 1 Dec 1997

Fagerlund T H, Ording H, Bendixen D, Islander G, Ranklev Twetman E, Berg K

Abstract excerpt

The ryanodine receptor 1 (RYR1) mutation C1840T has been reported to segregate with malignant hyperthermia (MH) susceptibility in several families. We have investigated several Scandinavian MH families with respect to five different RYR1 mutations reported to cause predisposition to MH, and we here report on two of the families in which the C1840T mutation was detected. In these two families there was...

Read the complete abstract on PubMed

Topics

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

Share to Denmark
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Contraction

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Sensitivity and Specificity

Share to Sweden

Source

Identifiers

PMID: 9520251
DOI: 10.1111/j.1399-0004.1997.tb02561.x

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.PMID 9520251Read ↗

RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.Semantic proximity Read ↗

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Semantic proximity Read ↗

Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.Semantic proximity Read ↗

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

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

A case of discordance between genotype and phenotype in a malignant hyperthermia family.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 ↗

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for <i>RYR1</i> -related Malignant Hyperthermia SusceptibilitySemantic proximity Read ↗

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

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

Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family.Semantic proximity Read ↗

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.Semantic proximity Read ↗

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