Barth syndrome associated with triple mutation

Pediatr Int. 2018 Apr;60(4):385-387. doi: 10.1111/ped.13517. Epub 2018 Mar 6.
No abstract available

Keywords: Barth syndrome; left ventricular non-compaction; triple mutation.

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases
  • Barth Syndrome / diagnosis*
  • Barth Syndrome / genetics
  • Dystrophin-Associated Proteins / genetics*
  • Electron Transport Complex II / genetics*
  • Female
  • Genetic Markers
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Neuropeptides / genetics*
  • Pedigree
  • Transcription Factors / genetics*

Substances

  • DTNA protein, human
  • Dystrophin-Associated Proteins
  • Genetic Markers
  • Neuropeptides
  • Transcription Factors
  • Electron Transport Complex II
  • SDHA protein, human
  • Acyltransferases
  • TAFAZZIN protein, human

Supplementary concepts

  • Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects