| 1 | MT-ND3, MTENC2
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| Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
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| Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A.
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| Mol Genet Metab 100(1):65-70. Epub 2010 Feb 10.PMID: 20202874 2010
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| 2 | MT-ND3
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| Identification of the mitochondrial ND3 subunit as a structural component involved in the active/deactive enzyme transition of respiratory complex I.
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| Galkin A, Meyer B, Wittig I, Karas M, Schägger H, Vinogradov A, Brandt U.
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| J Biol Chem 283(30):20907-13. Epub 2008 May 23.
2008
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| 3 | MT-ND3, MTENC2
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| A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
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| Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V.
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| Am J Med Genet A 143(1):33-41. 2007
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| 4 | COX1, MT-ATP8, MT-CO2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND6
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| Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.
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| Roostalu U, Kutuev I, Loogvali EL, Metspalu E, Tambets K, Reidla M, Khusnutdinova EK, Usanga E, Kivisild T, Villems R.
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| Mol Biol Evol 24(2):436-48. Epub 2006 Nov 10. 2007
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| 5 | MTENC2, MT-ND3
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| Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
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| Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, Gilad E, Lerman-Sagie T.
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| Biochem Biophys Res Commun 334(2):582-7. 2005
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| 6 | MT-ND1, MT-ND3, MT-ND4, MT-ND2
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| Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.
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| Autere J, Moilanen JS, Finnila S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K.
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| Hum Genet 115(1):29-35. Epub 2004 Apr 24. 2004
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| 7 | MTENC2, MT-ND3
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| De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
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| McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR.
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| Ann Neurol 55(1):58-64. 2004
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| 8 | MT-ND3
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| Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
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| Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM.
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| Ann Neurol 50(1):104-7. 2001
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| 9 | MT-ND1, MT-ND2, MT-ND5, MT-ND4, MT-ND4L, MT-ND3
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| Reanalysis and revision of the Cambridge reference sequence for humanmitochondrial DNA.
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| Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N.
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| Nat Genet 23(2):147. No abstract available. 1999
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| 10 | MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, NDUFA10, NDUFA3, NDUFA7, NDUFA9, NDUFB10, NDUFB4, NDUFB5, NDUFB8, NDUFC2, NDUFS1, NDUFS7, NDUFS8, NDUFV2, NDUFV3
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| cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
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| Loeffen JL, et al.
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| Biochem Biophys Res Commun 253(2):415-22. 1998
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| 11 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
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| Molecular insight into the asymmetric distribution of pathogenetic humanmitochondrial DNA deletions.
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| Johns DR, Cornblath DR.
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| Biochem Biophys Res Commun 174(1):244-50. 1991
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| 12 | MT-ND2, MT-ND1, MT-ND4L, MT-ND3, MT-ND4, MT-ND5
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| Site-specific deletions of the mitochondrial genome in the Pearsonmarrow-pancreas syndrome.
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| Rotig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA,Munnich A.
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| Genomics 10(2):502-4. 1991
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| 13 | MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5
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| Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
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| Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA.
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| Mol Cell Biol 11(3):1631-7. 1991
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| 14 | MAP6, MT-ATP8, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TA, MT-TC, MTTS1
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| Sequence and organization of the human mitochondrial genome.
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| Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG.
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| Nature 290(5806):457-65. 1981
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| 15 | MT-ND1, MT-ND4L, MT-ND5, MT-ND4, MT-ND3, MT-ND2
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| Distinctive features of the 5'-terminal sequences of the human mitochondrialmRNAs.
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| Montoya J, Ojala D, Attardi G.
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| Nature 290(5806):465-70. 1981
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