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Article

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

Trends in cardiovascular medicine - 1 Jul 2002

Dirksen Robert T, Avila Guillermo

Abstract excerpt

Central core disease (CCD) is an autosomal-dominant human congenital myopathy that is associated with at least 22 different mutations in the skeletal muscle isoform of ryanodine receptor (RyR1). CCD mutations in RyR1 have been proposed to lead to the formation of sarcoplasmic reticulum (SR) Ca(2+) release channels that are excessively leaky to Ca(2+). Although some of the CCD mutations in RyR1 may indeed result...

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Source

Identifiers

PMID: 12161072
DOI: 10.1016/s1050-1738(02)00163-9

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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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