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

Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?

Genetic testing - 1 Jan 2000

Vainzof M, Muniz V P, Tsanaclis A M, Silva H C, Rusticci M S

Abstract excerpt

Malignant hyperthermia (MH) and central core disease (CCD) are two conditions associated with susceptibility to volatile anesthetics and depolarizing muscle relaxants. The gene RYR1, encoding the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum, is responsible for about 50% of the cases of MH and some cases of CCD. However, genetic heterogeneity occurs in MH and a mutation in a second gene...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels
Share to Calcium Channels, L-Type
Share to Child, Preschool

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

Share to DNA Mutational Analysis

Share to Histocytochemistry

Share to Malignant Hyperthermia

Share to Muscles

Share to Myopathy, Central Core

Source

Identifiers

PMID: 11216663
DOI: 10.1089/109065700750065135

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

Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?PMID 11216663Read ↗

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

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?Semantic proximity Read ↗

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.Semantic proximity Read ↗

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

Increasing the number of diagnostic mutations in malignant hyperthermia.Semantic proximity Read ↗

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

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.Semantic proximity Read ↗

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

Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.Semantic proximity Read ↗

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

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.Semantic proximity Read ↗

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

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