TY - JOUR T1 - The genetics of malignant hyperthermia. JF - Journal of Medical Genetics JO - J Med Genet SP - 89 LP - 93 DO - 10.1136/jmg.30.2.89 VL - 30 IS - 2 AU - S P Ball AU - K J Johnson Y1 - 1993/02/01 UR - http://jmg.bmj.com/content/30/2/89.abstract N2 - 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. ER -