Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.
Pagniez-Mammeri
Hélène
H
Landrieu
Pierre
P
Legrand
Alain
A
Slama
Abdelhamid
A
D001921:Brain / Q000473:pathology; D042967:Electron Transport Complex I / Q000172:deficiency*; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009245:NADH Dehydrogenase / Q000235:genetics*
C487793:NDUFS1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I