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Molecular screening for specific causative mutations in the South African malignant hyperthermia population
(North-West University, 2004)
Malignant hyperthermia (MH) is an autosomal dominant, pharmacogenetic disorder. MH susceptible (MHS) patients appear clinically normal, but may present with a hypermetabolic crisis and muscle contracture when exposed to ...
Screening of the RYR1 gene in malignant hyperthermia probands from South Africa indicates towards a novel epigenetic eatiology in this population
(North-West University, 2007)
Malignant hyperthermia (MH) is an autosomal dominant, potentially lethal pharmacogenetic disorder of skeletal muscle, which is elicited by exposure to volatile anaesthetics and depolarising muscle relaxants. Susceptible ...