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Showing 1 to 1 of 1 for “"Skeletal muscle disorder"”.
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Malignant hyperthermia: allele specific expression and mutation screening of the ryanodine receptor 1 : a dissertation presented to Massey University in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Biochemistry
Malignant hyperthermia (MH) is a dominant skeletal muscle disorder caused by mutations in the ryanodine receptor skeletal muscle calcium release channel (RyR1). Allele-specific differences in RyR1 expression levels might provide insight into the observed incomplete penetrance and variations in MH …