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Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle.
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Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle. The disease caused by mutations in the ryanodine receptor type 1 (RyR1) gene. The RyR1 gene causes dysfuntion of the calcium release channel of the sarcoplasmic reticulum in skeletal muscle.
Clinical feautures are intense heat, hypercapnia, lactic acidosis, and, in many cases, death.
It is still unknown if the mutation in the RyR1 gene is responsible for all cases of MH in horses.
Pubmed ID: 15318347
Omia ID: 621