悪性高熱 update

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology 2008 71: 776-777.
skeletal muscle calcium release channel リアノジン受容体遺伝子(RYR1) に新たな変異を認めた悪性高熱に感受性のあるKing-Denborough症候群の女性例