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

Mutations in RYR1 in malignant hyperthermia and central core disease.

Human mutation - 1 Oct 2006

Robinson Rachel, Carpenter Danielle, Shaw Marie-Anne, Halsall Jane, Hopkins Philip

Abstract excerpt

The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to RYR1 gene
Share to Genotype

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

Share to Malignant Hyperthermia

Share to Mutation

Share to Myopathy, Central Core

Share to Phenotype

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 16917943
DOI: 10.1002/humu.20356

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

Mutations in RYR1 in malignant hyperthermia and central core disease.PMID 16917943Read ↗

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

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.Semantic proximity Read ↗

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.Semantic proximity Read ↗

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

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Semantic proximity Read ↗

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Semantic proximity Read ↗

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.Semantic proximity Read ↗

Central core disease is due to RYR1 mutations in more than 90% of patients.Semantic proximity Read ↗

Central core disease: clinical, pathological, and genetic features.Semantic proximity Read ↗

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.Semantic proximity Read ↗

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.Semantic proximity Read ↗

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

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