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© 1994 Oxford University Press

OTHER

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

Katherine E. Keating, Kathleen A. Quane, Bernadette M. Manning, Mary Lehane1, Edmund Hartung2, Kathrin Censier3, Albert Urwyler3, Monika Klausnitzer4, Clemens R. Muller4, James J.A. Heffron and Tommie V. McCarthy*,

Department of Biochemistry, University College Cork, Ireland 1Department of Anaesthesia, University College Cork, Ireland 2Institute for Anaesthesiology Josef Schneider Str 2, D-97080 Wurzburg, Germany 3Department of Anaesthesia and Research, University Hospital CH-4031 Basel, Switzerland 4Department of Human Genetics, University of Wurzburg Biozentrum Am Hubland, D-97074 Wurzburg, Germany

*To whom correspondence should be addressed

Received June 20, 1994; Revised July 29, 1994; Accepted July 29, 1994

Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics and depolarizing muscle relaxants. To date, six mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in malignant hyperthermia susceptible (MHS) and central core disease (CCD) cases. Using SSCP analysis, we have screened the RYR1 gene in affected individuals for novel MHS mutations and have identified a G to A transition mutation which results in the replacement of a conserved Gly at position 2433 with an Arg. The Gly2433Arg mutation was present in four of 104 unrelated MHS individuals investigated and was not detected in a normal population sample. This mutation is adjacent to the previously identified Arg2434His mutation reported in a CCD/MH family and indicates that there may be a second region in the RYR1 gene where MHS/CCD mutations cluster.


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