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Distribution of HCM sarcomere gene mutations

Distribution of HCM sarcomere gene mutations
Distribution of genes encoding proteins of cardiac sarcomere in clinical populations. A variety of laboratories report a wide range in mutational yield (24 to 63 percent), leaving a significant proportion of the HCM population genotype negative. Highest yields are in families with multiple affected relatives, with lower rates in clinically identified HCM probands.
HCM: hypertrophic cardiomyopathy.
Data from: Maron BJ, Maron MS, Semsarian C. Genetics of Hypertrophic Cardiomyopathy after 20 years. J Am Coll Cardiol 2012; 60:705.
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