Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model
M Wehner, H Rueffert, F Koenig, D Olthoff - Neuromuscular disorders, 2004 - Elsevier
Malignant hyperthermia (MH) is a pharmacogenetic disorder with an autosomal dominant
inheritance. During exposure to triggering agents as volatile anaesthetics, affected
individuals may develop a potentially fatal hypermetabolic syndrome caused by excessive
calcium release from the sarcoplasmic reticulum in skeletal muscle. More than 60MH
associated mutations were found in the gene of skeletal muscle ryanodine receptor (RyR1),
but only some of them have been functionally characterized. Primary human myotubes were …
inheritance. During exposure to triggering agents as volatile anaesthetics, affected
individuals may develop a potentially fatal hypermetabolic syndrome caused by excessive
calcium release from the sarcoplasmic reticulum in skeletal muscle. More than 60MH
associated mutations were found in the gene of skeletal muscle ryanodine receptor (RyR1),
but only some of them have been functionally characterized. Primary human myotubes were …