| 1 | MT-ND2, MT-ND4
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| Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males.
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| Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Yamaguchi S, Nozawa Y, Tanaka M.
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| Hum Genet 120(6):827-36. Epub 2006 Oct 11. 2007
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| 2 | 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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| 3 | 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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| 4 | MT-ND2
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| Paternal inheritance of mitochondrial DNA.
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| Schwartz M, Vissing J.
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| N Engl J Med 347(8):576-80. No abstract available. 2002
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| 5 | MT-ND1, MT-ND2
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| Novel mitochondrial DNA mutations in Parkinson's disease.
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| Richter G, Sonnenschein A, Grunewald T, Reichmann H, Janetzky B.
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| J Neural Transm 109(5-6):721-9. 2002
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| 6 | MT-ND2
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| Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population.
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| Kokaze A, Ishikawa M, Matsunaga N, Yoshida M, Sekine Y, Teruya K, Takeda N, Sumiya Y, Uchida Y, Takashima Y.
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| Hum Genet 109(5):521-5. 2001
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| 7 | 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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| 8 | 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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| 9 | MT-ND2
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| Departure from neutrality at the mitochondrial NADH dehydrogenase subunit 2 gene in humans, but not in chimpanzees.
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| Wise CA, Sraml M, Easteal S.
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| Genetics 148(1):409-21. 1998
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| 10 | MT-ND2, MT-ND5, LHON
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| Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
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| Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC.
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| Genetics 130(1):163-73. 1992
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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 | MT-ND1, MT-ND2, MT-ND5
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| Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
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| Johns DR, Berman J.
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| Biochem Biophys Res Commun 174(3):1324-30. 1991
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| 15 | 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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| 16 | 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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