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Article

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

PloS one - 1 Jan 2013

Lefebvre Romain, Legrand Claude, Groom Linda, Dirksen Robert T, Jacquemond Vincent

Abstract excerpt

The large and rapidly increasing number of potentially pathological mutants in the type 1 ryanodine receptor (RyR1) prompts the need to characterize their effects on voltage-activated sarcoplasmic reticulum (SR) Ca(2+) release in skeletal muscle. Here we evaluated the function of the R4892W and G4896V RyR1 mutants, both associated with central core disease (CCD) in humans, in myotubes and in adult muscle fibers....

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Source

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Identifiers

PMID: 23308296
DOI: 10.1371/journal.pone.0054042
PMCID: PMC3538700

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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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