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Article

Characterization and temporal development of cores in a mouse model of malignant hyperthermia

4 Dec 2009

Abstract excerpt

Malignant hyperthermia (MH) and central core disease are related skeletal muscle diseases often linked to mutations in the type 1 ryanodine receptor (RYR1) gene, encoding for the Ca(2+) release channel of the sarcoplasmic reticulum (SR). In humans, the Y522S RYR1 mutation is associated with malignant hyperthermia susceptibility (MHS) and the presence in skeletal muscle fibers of core regions that lack...

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PMID: 19966218
DOI: 10.1073/pnas.0911496106

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