The genetics of malignant hyperthermia.
Malignant hyperthermia susceptibility remains the commonest cause of death owing to general anaesthesia. This is despite the availability of presymptomatic testing, admittedly by a highly invasive method, and a recognised treatment for implementation immediately a patient shows signs of developing a crisis. Recently the finding of linkage to markers from chromosome 19q13.1-13.2 and the identification of mutations in a candidate gene held out hope of genetic diagnosis being available. However, it is likely that only about 50% of families have a mutation of the skeletal muscle calcium release channel gene. With this degree of genetic heterogeneity, presymptomatic testing based on DNA markers can only be offered at present to a limited number of families where linkage to markers from 19q13.1-13.2 has been clearly shown.
Ball
S P
SP
Department of Biological Sciences, University of Exeter, Washington-Singer Laboratories.
Johnson
K J
KJ
D000818:Animals; D015220:Calcium Channels / Q000235:genetics; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004195:Disease Models, Animal; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D013552:Swine
D015220:Calcium Channels