PT  - JOURNAL ARTICLE
AU  - Ball, S P
AU  - Johnson, K J
TI  - The genetics of malignant hyperthermia.
AID  - 10.1136/jmg.30.2.89
DP  - 1993 Feb 01
TA  - Journal of Medical Genetics
PG  - 89--93
VI  - 30
IP  - 2
4099  - http://jmg.bmj.com/content/30/2/89.short
4100  - http://jmg.bmj.com/content/30/2/89.full
SO  - J Med Genet1993 Feb 01; 30
AB  - 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.