1 | CMTND1, CMTND2, CMTND3, CMTND4, CMTND6, CMTND7
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| A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
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| Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforęt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N.
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| J Med Genet 48(1):16-23. Epub 2010 Oct 23.
2011
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2 | CMTND1, NDUFS2, NDUFS4, NDUFS7, NDUFS8
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| Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
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| Ugalde C, Janssen RJ, Van Den Heuvel LP, Smeitink JA, Nijtmans LG.
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| Hum Mol Genet 13(6):659-67. Epub 2004 Jan 28. 2004
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3 | CMTND1, NDUFS4
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| Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
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| Petruzzella V, Papa S.
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| Gene 286(1):149-54. Review. 2002
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4 | CMTND1
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| New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
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| Dionisi-Vici C, Ruitenbeek W, Fariello G, Bentlage H, Wanders RJ, Schagger H, Bosman C, Piantadosi C, Sabetta G, Bertini E.
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| Ann Neurol 42(4):661-5. 1997
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5 | CMTND1, NDUFS4
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| Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.
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| Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, Ruitenbeek W, Schlote W, Pfeiffer K, Gencic S, von Jagow G, et al.
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| Eur J Biochem 227(3):909-15. 1995
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