Article
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
Clinical genetics - 1 Jul 2002
McWilliams S, Nelson T, Sudo R T, Zapata-Sudo G, Batti M, Sambuughin N
Abstract excerpt
Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian...
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