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Article

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

Anesthesia and analgesia - 1 Jul 2010

Vukcevic Mirko, Broman Marcus, Islander Gunilla, Bodelsson Mikael, Ranklev-Twetman Eva, Müller Clemens R, Treves Susan

Abstract excerpt

BACKGROUND: A diagnosis of malignant hyperthermia susceptibility by in vitro contraction testing can often only be performed at specialized laboratories far away from where patients live. Therefore, we have designed a protocol for genetic screening of the RYR1-cDNA and for functional testing of newly identified ryanodine receptor 1 (RYR1) gene variants in B lymphocytes isolated from peripheral blood samples drawn...

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Biopsy
Blood Specimen Collection
Cresols
Malignant Hyperthermia
Muscle Contraction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myopathy, Central Core

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 20142353
DOI: 10.1213/ANE.0b013e3181cbd815

Genes

RYR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.PMID 20142353Read ↗

Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.Semantic proximity Read ↗

Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.Semantic proximity Read ↗

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.Semantic proximity Read ↗

Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia.Semantic proximity Read ↗

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.Semantic proximity Read ↗

Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.Semantic proximity Read ↗

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

Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.Semantic proximity Read ↗

Novel ryanodine receptor mutation that may cause malignant hyperthermia.Semantic proximity Read ↗

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.Semantic proximity Read ↗

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.Semantic proximity Read ↗

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