Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation.
Dinopoulos
Argirios
A
Smeitink
Jan
J
ter Laak
Henk
H
D042967:Electron Transport Complex I / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000473:pathology*; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D009154:Mutation; D009245:NADH Dehydrogenase
C487793:NDUFS1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I