| 1 | MT-ATP6, MT-ATP8, MTCMH10
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| Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
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| Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ.
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| J Med Genet 46(5):308-14. Epub 2009 Feb 2.
2009
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| 2 | KSS, MT-ATP8
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| A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
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| Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ.
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| J Med Genet 45(3):129-33. Epub 2007 Oct 22. 2008
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| 3 | 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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| 4 | 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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