title: Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.
abstract: The ryanodine receptor 1 (RYR1) mutation C1840T has been reported to segregate with malignant hyperthermia (MH) susceptibility in several families. We have investigated several Scandinavian MH families with respect to five different RYR1 mutations reported to cause predisposition to MH, and we here report on two of the families in which the C1840T mutation was detected. In these two families there was recombination between MH susceptibility and this mutation in one and three individuals, respectively. These findings may suggest that it is necessary to reconsider the specificity of the IVCT and the role of C1840T as a cause of MH susceptibility in some families exhibiting this mutation.
authors.affiliation: Institute of Medical Genetics, University of Oslo, Norway.
authors.forename: T H
authors.initials: TH
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: D000758:Anesthesia; D002110:Caffeine; D003718:Denmark; D005260:Female; D020022:Genetic Predisposition to Disease; D006221:Halothane; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics*; D009119:Muscle Contraction / Q000187:drug effects; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D012680:Sensitivity and Specificity; D013548:Sweden
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002110:Caffeine; D006221:Halothane