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The most common Mendelian cardiovascular condition, hypertrophic cardiomyopathy (HCM), is defined by unexplained cardiac hypertrophy and can be complicated by left ventricular outflow tract obstruction, atrial and ven-tricular arrhythmias, sudden cardiac death, and heart fail-ure.1 Sarcomere gene mutations account for 50 % to 75% of the genetic basis of HCM, the majority found in the 2 largest genes, MYBPC3 (myosin binding protein C) and MYH7 (β-myosin heavy chain).2 Despite identification of>1000 sarcomere gene mutations, molecular mechanisms that elicit disease phenotypes are incompletely defined.3 One fundamental question pertains to the nature of the gene product derived from the mutant allele. Most sarcomere mutations result in a single amino acid substitution that encodes a full-length protein. The exception is MYBPC3 in which>50 % of mutations create a premature termina-tion codon (PTC).4 The widely accepted hypothesis is tha

Year: 2016
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