Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/134343
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dc.titleThe genetic basis of malignant hyperthermia.
dc.contributor.authorMoochhala, S.M.
dc.contributor.authorTan, W.T.
dc.contributor.authorLee, T.L.
dc.date.accessioned2016-12-20T08:46:09Z
dc.date.available2016-12-20T08:46:09Z
dc.date.issued1994-07
dc.identifier.citationMoochhala, S.M., Tan, W.T., Lee, T.L. (1994-07). The genetic basis of malignant hyperthermia.. Annals of the Academy of Medicine Singapore 23 (4) : 475-478. ScholarBank@NUS Repository.
dc.identifier.issn03044602
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/134343
dc.description.abstractMalignant hyperthermia (MH) susceptibility remains the commonest cause of death owing to general anaesthesia. In humans, genetically predisposed to MH, anaesthesia can induce skeletal muscle rigidity, hypermetabolism and hyperthermia, which if not immediately reversed can lead to tissue injury and death. In swine, the corresponding condition leads to stress-induced deaths and devalued meat products. Aberrant behaviour in the calcium (Ca2+) release channel (the ryanodine receptor) of skeletal muscle sarcoplasmic reticulum has been implicated in the cause of both the porcine and human syndromes by biochemical, physiological and molecular genetic analysis. In swine, a single mutation in the ryanodine receptor gene (RYR1) can account for all cases of MH in all breeds, but a series of different RYR1 mutation are uncovered in human families with MH. In addition, the lack of linkage between MH and RYR1 in some families indicates a heterogeneous genetic basis for the human MH.
dc.typeReview
dc.contributor.departmentSURGERY
dc.contributor.departmentANAESTHESIA
dc.description.sourcetitleAnnals of the Academy of Medicine Singapore
dc.description.volume23
dc.description.issue4
dc.description.page475-478
dc.identifier.isiutNOT_IN_WOS
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