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Article

Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.

The Journal of physiology - 15 Nov 2011

Lefebvre Romain, Legrand Claude, González-Rodríguez Estela, Groom Linda, Dirksen Robert T, Jacquemond Vincent

Abstract excerpt

Mutations of the gene encoding the type 1 ryanodine receptor (RyR1) are associated with skeletal muscle disorders including malignant hyperthermia susceptibility (MHS) and central core disease (CCD). We used in vivo expression of EGFP-RyR1 constructs in fully differentiated mouse muscle fibres to characterize the function of several RyR1 mutants. Wild-type and Y523S, R615C, R2163H and I4897T mutants of RyR1 were...

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Identifiers

PMID: 21969454
DOI: 10.1113/jphysiol.2011.216408
PMCID: PMC3240878

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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