Article
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees.
Human molecular genetics - 1 Jun 1997
Robinson R L, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran J L, Monsieurs K, Stieglitz P, Heytens L, Fricker R, van Broeckhoven C, Deufel T, Hopkins P M, Lunardi J, Mueller C R
Abstract excerpt
Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal in susceptible individuals on exposure to commonly used inhalational anaesthetics and depolarising muscle relaxants. Crises reflect the consequences of disturbed skeletal muscle calcium homeostasis. Susceptibility was first localised to chromosome 19q13.1 and the skeletal muscle ryanodine receptor, RYR1 (the calcium release...
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