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Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of the skeletal muscle and is triggered in susceptible individuals by commonly used inhalation anaesthetics and depolarizing muscle relaxants. Around 80% of the affected family are linked to the ryanodine receptor ( RYR1 ) gene. More than 300 mutations in  RYR1  have been associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the  RYR1  gene.

Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia