DETECTION OF A NOVEL COMMON MUTATION IN THE RYANODINE RECEPTOR GENE IN MALIGNANT HYPERTHERMIA - IMPLICATIONS FOR DIAGNOSIS AND HETEROGENEITY STUDIES

作者：QUANE KA; KEATING KE; MANNING BM; HEALY JMS; MONSIEURS K; HEFFRON JJA; LEHANE M; HEYTENS L; KRIVOSICHORBER R; ADNET P; ELLIS FR; MONNIER N; LUNARDI J; MCCARTHY TV

来源：Human Molecular Genetics, 1994, 3(3): 471-476.

DOI：10.1093/hmg/3.3.471

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. To date, the ryanodine receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthermia 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 Gly341Arg mutation which accounts for approximately 10% of Caucasian MHS cases. The implications of this common mutation in MHS diagnosis and heterogeneity studies are discussed.

• 出版日期1994-3