Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia.

Yuko NodaToshimichi YasudaRieko KanzakiHirotsugu MiyoshiKeiko MukaidaSatoshi KamiyaAtsushi MorioHiroshi HamadaMasashi KawamotoYasuo M Tsutsumi

Published in: Journal of anesthesia (2020)

p.Ser2345Thr and p.Ser2345Arg appear capable of causing a calcium metabolism disorder that leads to the onset of MH, and p.Ser2345Arg can be considered as a diagnostic mutation, because it meets the European Malignant Hyperthermia Group criteria. However, patients with p.Lys3367Arg might have mutations in genes other than RYR1 that are capable of causing MH.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
genome wide
gene expression
patient reported