title: RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.
abstract: Malignant hyperthermia (MH) is a pharmacogenetic disorder. Susceptibility to MH (MHS) is presumed to be inherited in an autosomal dominant way. MH crises are triggered by halogenated inhalational anaesthetics and suxamethonium, and may be lethal if not treated early and adequately. Until now, eight mutations in the RYR1 gene have been described as causes of MHS phenotype in various MH families. The mutation RYR1 G1021A (Gly341Arg) has been reported to account for approximately 10% of Caucasian MHS cases. However, in our study this mutation was discovered in only 1 out of 89 Scandinavian families, indicating that this mutation may be the cause of MHS in only about 1% of MHS families in those populations. The mutation may have been brought to Scandinavia by an immigrant.
authors.affiliation: Institute of Medical Genetics, University of Oslo, Norway.
authors.forename: T
authors.initials: T
authors.lastname: Fagerlund
authors.forename: H
authors.initials: H
authors.lastname: Ording
authors.forename: D
authors.initials: D
authors.lastname: Bendixen
authors.forename: G
authors.initials: G
authors.lastname: Islander
authors.forename: E
authors.initials: E
authors.lastname: Ranklev-Twetman
authors.forename: K
authors.initials: K
authors.lastname: Berg
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D003718:Denmark; D004198:Disease Susceptibility; D005260:Female; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000453:epidemiology* / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel; D013548:Sweden
chemical_list: D015220:Calcium Channels; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel