Modifier genes for hypertrophic cardiomyopathy.

  title={Modifier genes for hypertrophic cardiomyopathy.},
  author={Ali J Marian},
  journal={Current opinion in cardiology},
  volume={17 3},
During the past decade, more than 100 mutations in 11 causal gene coding for sarcomeric proteins, the gamma subunit of AMP-activated protein kinase and triplet-repeat syndromes and in mitochondrial DNA, have been identified in patients with hypertrophic cardiomyopathy (HCM). Genotype-phenotype correlation studies show significant variability in the phenotype expression of HCM among affected individuals with identical causal mutations. Overall, causal mutations account for a fraction of the… CONTINUE READING