Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome

Identification of malignant hyperthermia

Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature

✍ Hajime Nishio; Takako Sato; Shinya Fukunishi; Akiyoshi Tamura; Misa Iwata; Kento 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 197 KB

Malignant hyperthermia (MH) is a genetic disorder of skeletal muscle in susceptible individuals that is triggered by exposure to anesthetic agents, and can cause death. Mutations in the ryanodine receptor type 1 gene (RYR1) are associated with MH-susceptibility. MH is also triggered in susceptible i