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Article

Gain of function in the immune system caused by a ryanodine receptor 1 mutation.

Journal of cell science - 1 Aug 2013

Vukcevic Mirko, Zorzato Francesco, Keck Simone, Tsakiris Dimitrios A, Keiser Jennifer, Maizels Rick M, Treves Susan

Abstract excerpt

Mutations in RYR1, the gene encoding ryanodine receptor 1, are linked to a variety of neuromuscular disorders including malignant hyperthermia (MH), a pharmacogenetic hypermetabolic disease caused by dysregulation of Ca(2+) in skeletal muscle. RYR1 encodes a Ca(2+) channel that is predominantly e...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23704352
DOI: 10.1242/jcs.130310
PMCID: PMC3730249

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23704352-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Gain of function in the immune system caused by a ryanodine receptor 1 mutation.PMID 23704352Read ↗

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