Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

doi:10.1007/BF00936884

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

Back to search

Article

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

Journal of neurology - 1 Feb 1995

Moroni I, Gonano E F, Comi G P, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G

Abstract excerpt

Malignant hyperthermia (MH) is a rare clinical syndrome, triggered in susceptible subjects by a variety of anaesthetic agents and muscle relaxants, and is the commonest cause of death due to general anaesthesia. Previous studies have reported that inherited mutations in the ryanodine receptor (RYR1) gene co-segregated, in some families, with MH susceptibility; lack of linkage between MH and the RYR1 gene in some...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Biopsy
Calcium Channels
Female
Genetic Predisposition to Disease
Humans
Male
Malignant Hyperthermia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Muscle Contraction

Muscle Proteins

Muscles

Pedigree

Point Mutation

Ryanodine Receptor Calcium Release Channel

Source

Open in PubMed

Identifiers

PMID: 7751854
DOI: 10.1007/BF00936884

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7751854-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.PMID 7751854Read ↗

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 ↗

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.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 ↗

Malignant hyperthermia susceptibility, an autosomal dominant disorder?Semantic proximity Read ↗

Genetics and pathogenesis of malignant hyperthermiaSemantic proximity Read ↗

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.Semantic proximity Read ↗

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

[Current aspects of the diagnosis of malignant hyperthermia].Semantic proximity Read ↗

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.Semantic proximity Read ↗

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

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.Semantic proximity Read ↗

[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].Semantic proximity Read ↗

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