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Kathleen A. Quane, Katherine E. Keating, Bernadette M. Manning, J.M.Sandra Healy, Koen Monsleurs, James J.A. Heffron, Mary Lehane, Luc Heytens, Renee Krivosic-Horber, Pascal Adnet, F.Richard Ellis, Nicole Monnler, Joel Lunardl, Tommie V. McCarthy, Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies, Human Molecular Genetics, Volume 3, Issue 3, March 1994, Pages 471–476, https://doi.org/10.1093/hmg/3.3.471
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Abstract
Malignant hyperthermla (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered In susceptible people by all commonly used Inhalational anaesthetics. To date, the ryanodlne receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthermla susceptible (MHS) cases. To determine if a common RYR1 mutation exists that might account for a significant number of MHS cases, we have investigated the RYR1 gene in unrelated patients for the presence of new mutations by the single-stranded conformation polymorphism method and have Identified a novel Gly341 Arg mutation which accounts for approximately 10% of Caucasian MHS cases. The Implications of this common mutation In MHS diagnosis and heterogeneity studies are discussed.
