{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:33:41Z","timestamp":1761647621444,"version":"build-2065373602"},"reference-count":53,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,2]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.30.2.89","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"89-93","source":"Crossref","is-referenced-by-count":55,"title":["The genetics of malignant hyperthermia."],"prefix":"10.1136","volume":"30","author":[{"given":"S P","family":"Ball","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K J","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,2,1]]},"reference":[{"key":"ref_1","first-page":"173","article-title":"Clinical and biochemical aspects of malignant hyperpyrexia","volume-title":"Recent advances in anaesthesia and analgesia. 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