title: A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
abstract: Eight mutations in the gene (the RYR1 gene) encoding the calcium release channel of sarcoplasmic reticulum (SR) in skeletal muscle are so far known to be very closely linked to malignant hyperthermia susceptibility in man and are regarded to be causative. We have examined 41 Swedish families where malignant hyperthermia had occurred in at least one member during anaesthesia, with respect to three of the known mutations. The mutations were Arg163Cys; Ile403Met and Arg614Cys (also known as the "pig mutation"). In three (i.e. 7%) of the families we detected the Arg614Cys mutation, and this was the only one of the mutations searched for that was observed. This indicates that other mutations than those searched for in this study must cause malignant hyperthermia susceptibility in most Swedish malignant hyperthermia susceptible families.
authors.affiliation: Institute of Medical Genetics, University of Oslo, Norway.
authors.forename: T H
authors.initials: TH
authors.lastname: Fagerlund
authors.forename: G
authors.initials: G
authors.lastname: Islander
authors.forename: E R
authors.initials: ER
authors.lastname: Twetman
authors.forename: K
authors.initials: K
authors.lastname: Berg
mesh_terms: D000328:Adult; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D015984:Causality; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel; D013548:Sweden
chemical_list: D015220:Calcium Channels; D002148:Calmodulin-Binding Proteins; D017931:DNA Primers; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel