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Article

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

The Journal of general physiology - 1 Sept 2001

Avila G, Dirksen R T

Abstract excerpt

Central core disease (CCD) is a human myopathy that involves a dysregulation in muscle Ca(2)+ homeostasis caused by mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1), the protein that comprises the calcium release channel of the SR. Although genetic studies have clearly demonstrated linkage between mutations in RyR1 and CCD, the impact of these mutations on release channel function and...

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Identifiers

PMID: 11524458
DOI: 10.1085/jgp.118.3.277
PMCID: PMC2229502

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.

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