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Abstract
A plenty of gene mutations causing cardiomyopathies have been identified and their relationship with the clinical outcomes is being discussed. At least in hypertrophic cardiomyopathy (HCM), genomic analysis of sarcomere protein gene mutations could convince us of the diagnosis of the disease. The variety of sarcomere protein gene mutations can partly explain the great diversity of clinical manifestation of HCM. Even in HCM, however, there remain some limitations that retard practical application of genetic diagnosis.
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