title: Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases.
abstract: Defects in Complex I of the mitochondrial respiratory chain have been identified in 38 patients. The clinical and laboratory features are reviewed and the results of recently devised strategies aimed at characterizing the primary molecular and genetic abnormalities are presented. Although not exhaustive, these studies have provided a molecular basis for the contention that defects in Complex I may have their origin in nuclear or in mitochondrial genes.
mesh_terms: D000818:Animals; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008928:Mitochondria / Q000201:enzymology*; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency* / Q000235:genetics
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases