Article
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Anesthesiology - 1 Jun 2006
Ibarra M Carlos A, Wu Shiwen, Murayama Kumiko, Minami Narihiro, Ichihara Yasuko, Kikuchi Hirosato, Noguchi Satoru, Hayashi Yukiko K, Ochiai Ryoichi, Nishino Ichizo
Abstract excerpt
BACKGROUND: Malignant hyperthermia (MH) is a disorder of calcium homeostasis in skeletal muscle triggered by volatile anesthetics or succinylcholine in susceptible persons. More than 100 mutations in the ryanodine receptor type 1 gene (RYR1) have been associated with MH susceptibility, central core disease, or both. RYR1 mutations may account for up to 70% of MH-susceptible cases. The authors aimed to determine...
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