title: New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.
authors.affiliation: Department of Neuropediatrics, Charité Virchow University Hospital, Augustenburger Platz 1, D-13353 Berlin, Germany. markus.schuelke@charite.de
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Anne
authors.initials: A
authors.lastname: Detjen
authors.forename: Lambert
authors.initials: L
authors.lastname: van den Heuvel
authors.forename: Christoph
authors.initials: C
authors.lastname: Korenke
authors.forename: Antoon
authors.initials: A
authors.lastname: Janssen
authors.forename: Arie
authors.initials: A
authors.lastname: Smits
authors.forename: Frans
authors.initials: F
authors.lastname: Trijbels
authors.forename: Jan
authors.initials: J
authors.lastname: Smeitink
mesh_terms: D000140:Acidosis, Lactic / Q000151:congenital / Q000175:diagnosis*; D042967:Electron Transport Complex I; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism; D009245:NADH Dehydrogenase; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011506:Proteins / Q000235:genetics*
chemical_list: C112232:NDUFV1 protein, human; D011506:Proteins; D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I