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Article

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

Cell calcium - 1 Feb 2009

Ghassemi Farshid, Vukcevic Mirko, Xu Le, Zhou Haiyan, Meissner Gerhard, Muntoni Francesco, Jungbluth Heinz, Zorzato Francesco, Treves Susan

Abstract excerpt

Ryanodine receptors plays a crucial role in skeletal muscle excitation-contraction coupling by releasing calcium ions required for muscle contraction from the sarcoplasmic reticulum. At least three phenotypes associated with more than 100 RYR1 mutations have been identified; in order to elucidate possible pathophysiological mechanisms of RYR1 mutations linked to neuromuscular disorders, it is essential to define...

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Source

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Identifiers

PMID: 19027160
DOI: 10.1016/j.ceca.2008.10.001
PMCID: PMC2662321

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

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Research trail→

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A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.PMID 19027160Read ↗

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

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Semantic proximity Read ↗

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.Semantic proximity Read ↗

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation in RyR1 gene in an Indian family affected with congenital myopathySemantic proximity Read ↗

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

Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.Semantic proximity Read ↗

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.Semantic proximity Read ↗

Ryanodine receptor defects in muscle genetic diseases.Semantic proximity Read ↗

Single Channel Properties of Heterotetrameric Mutant RyR1 Ion Channels Linked to Core MyopathiesSemantic proximity Read ↗

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

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