• Eur. J. Hum. Genet. · Feb 2000

    Case Reports

    Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.

    • G Fortunato, R Berruti, V Brancadoro, M Fattore, F Salvatore, and A Carsana.
    • Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli and CEINGE Biotecnologie Avanzate, Naples, Italy.
    • Eur. J. Hum. Genet. 2000 Feb 1;8(2):149-52.

    AbstractMalignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is one of the main causes of death subsequent to anaesthesia. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. To date, 19 mutations have been identified in the coding region of this gene and appear to be 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: the 6488G-->C transversion, resulting in the replacement of the Arg2163 with a proline residue.

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