New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods

Clin Chem. 2002 May;48(5):772-5.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / congenital
  • Acidosis, Lactic / diagnosis*
  • Electron Transport Complex I
  • Female
  • Humans
  • Male
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • NADH Dehydrogenase
  • NADH, NADPH Oxidoreductases / deficiency*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Proteins / genetics*

Substances

  • NDUFV1 protein, human
  • Proteins
  • NADH, NADPH Oxidoreductases
  • NADH Dehydrogenase
  • Electron Transport Complex I