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Article

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Neuromuscular disorders : NMD - 1 Feb 2013

Kraeva Natalia, Zvaritch Elena, Rossi Ann E, Goonasekera Sanjeewa A, Zaid Hilal, Frodis Wanda, Kraev Alexander, Dirksen Robert T, Maclennan David H, Riazi Sheila

Abstract excerpt

Central core disease, one of the most common congenital myopathies in humans, has been linked to mutations in the RYR1 gene encoding the Ca(2+) release channel of the sarcoplasmic reticulum (RyR1). Functional analyses showed that disease-associated RYR1 mutations led to impairment of skeletal muscle Ca(2+) homeostasis; however, thorough understanding of the molecular mechanisms underlying central core disease and...

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Source

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Identifiers

PMID: 23183335
DOI: 10.1016/j.nmd.2012.08.007
PMCID: PMC3563839

Genes

RYR1

Variants

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.

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