Abstract
Recently, numerous mutations in sarcomeric genes are reported as factor of cardiomyopathy. Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are general disease in cardiomyopathy and causes sudden death in young people. In this study, ventricular myosin regulatory light chain gene (MYL2) and ventricular myosin essential light chain gene (MYL3) were analyzed in order to elucidate the cause of cardiomyopathy. In MYL3, a significant missense mutation (Ala57Gly) was detected in HCM case. This mutation was located in the EF-hand domain calcium-binding site that regulates the cardiac contraction. No genetic mutation was found in our previous report except this gene, it indicated that the mutation of the MYL3 was the main factor for the HCM case. It is necessary to survey the other disease causing genes to clarify the relationship with etiology.
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