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Article

Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.

The Journal of biological chemistry - 7 Jan 2011

Giulivi Cecilia, Ross-Inta Catherine, Omanska-Klusek Alicja, Napoli Eleonora, Sakaguchi Danielle, Barrientos Genaro, Allen Paul D, Pessah Isaac N

Abstract excerpt

Malignant hyperthermia (MH) and central core disease in humans have been associated with mutations in the skeletal ryanodine receptor (RyR1). Heterozygous mice expressing the human MH/central core disease RyR1 R163C mutation exhibit MH when exposed to halothane or heat stress. Considering that many MH symptoms resemble those that could ensue from a mitochondrial dysfunction (e.g. metabolic acidosis and...

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Identifiers

PMID: 20978128
DOI: 10.1074/jbc.M110.153247
PMCID: PMC3013050

Genes

GAPDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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