Abstract

Developments in the molecular genetic studies of cardiomyopathy (CM) have led to discovery of a large number of mutations in the genes encoding the sarcomeric proteins. In this study, comprehensive screening of TNNT2, TNNI3 and TNNC1 was performed in 36 consented autopsy cases diagnosed as CM, in order to evaluate the prevalence of gene mutations in sudden death caused by CM. A total of 12 mutations and 15 single nucleotide polymorphisms (SNPs) were detected. It was indicated that this study contribute to genetic based diagnosis, risk stratification and prevention of sudden death caused by CM.

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