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

C Giulivi, C Ross-Inta, A Omanska-Klusek… - Journal of biological …, 2011 - ASBMB
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 (eg metabolic acidosis and hyperthermia) and that
MH-susceptible mice or humans have a higher than normal cytoplasmic Ca 2+ …