Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy

Int J Cardiol. 2016 Oct 15:221:446-9. doi: 10.1016/j.ijcard.2016.06.287. Epub 2016 Jun 29.
No abstract available

Keywords: Dried blood spots; Guthrie card; Infantile cardiomyopathy; Mitochondrial cardiomyopathy; m.8528T>C.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Pairing / genetics
  • Cardiomyopathies / blood
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Dried Blood Spot Testing / methods*
  • Female
  • Humans
  • Infant, Newborn
  • Mutation / genetics*
  • Neonatal Screening / methods*
  • Severity of Illness Index*