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Article

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Proceedings of the National Academy of Sciences of the United States of America - 22 Dec 2009

Zvaritch Elena, Kraeva Natasha, Bombardier Eric, McCloy Robert A, Depreux Frederic, Holmyard Douglas, Kraev Alexander, Seidman Christine E, Seidman J G, Tupling A Russell, MacLennan David H

Abstract excerpt

Ryr1(I4895T/wt) (IT/+) mice express a knockin mutation corresponding to the human I4898T EC-uncoupling mutation in the type 1 ryanodine receptor/Ca(2+) release channel (RyR1), which causes a severe form of central core disease (CCD). IT/+ mice exhibit a slowly progressive congenital myopathy, wit...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19959667
DOI: 10.1073/pnas.0912126106
PMCID: PMC2788482

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19959667-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.PMID 19959667Read ↗

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