The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

Int J Cardiol. 2008 Jun 6;126(3):439-42. doi: 10.1016/j.ijcard.2007.02.049. Epub 2007 May 7.


MITOMAP is by far the most frequently cited Web resource that is referred to in substantiating novelty of an mtDNA mutation. This database, as is now known, has quite an incomplete coverage of the mtDNA mutations from the literature. This circumstance has seduced many scholars of medical genetics in the past to claim novelty of rather 'worn-out' mtDNA mutations. What is, however, really novel in the field is that researchers take advantage of this situation and deliberately suppress information from other sources, as it appears to have occurred in two recently published cases of hypertrophic cardiomyopathy.

Publication types

  • Letter

MeSH terms

  • Cardiomyopathy, Hypertrophic / epidemiology
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / physiopathology
  • DNA, Mitochondrial / genetics*
  • Databases, Genetic*
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / epidemiology*
  • Haplotypes
  • Humans
  • Male
  • Mutation
  • Noonan Syndrome / epidemiology
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / physiopathology
  • Risk Factors
  • Sensitivity and Specificity
  • Severity of Illness Index


  • DNA, Mitochondrial
  • Genetic Markers