Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein.
Barth
P G
PG
Department of Neurology, University Hospital Amsterdam, The Netherlands.
Bolhuis
P A
PA
Wijburg
F A
FA
Sinjorgo
K M
KM
Ruitenbeek
W
W
Schutgens
R B
RB
D002478:Cells, Cultured; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology*; D008970:Molecular Weight; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency* / Q000235:genetics / Q000302:isolation & purification
D004272:DNA, Mitochondrial; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases