Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C).

Abstract excerpt

We performed the present study to identify the mutation in patients in Taiwan with malignant hyperthermia (MH). We also test the hypothesis that a denaturing high-performance liquid chromatography (DHPLC) protocol can be used for mutation detection in these patients. We identified five Taiwanese patients with typical clinical presentations of MH after general anesthesia. We also enrolled 50 healthy volunteers....

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