New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.
Schuelke
Markus
M
Department of Neuropediatrics, Charité Virchow University Hospital, Augustenburger Platz 1, D-13353 Berlin, Germany. markus.schuelke@charite.de
Detjen
Anne
A
van den Heuvel
Lambert
L
Korenke
Christoph
C
Janssen
Antoon
A
Smits
Arie
A
Trijbels
Frans
F
Smeitink
Jan
J
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*
C112232:NDUFV1 protein, human; D011506:Proteins; D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I