| 1 | PEO2, SLC25A4
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| adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.
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| Kawamata H, Tiranti V, Magrané J, Chinopoulos C, Manfredi G.
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| Hum Mol Genet 20(15):2964-74. Epub 2011 May 17.
2011
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| 2 | C10orf2, PEO2, PEO3, SLC25A4
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| SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.
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| Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS.
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| J Clin Neurol 7(1):25-30. Epub 2011 Mar 31.
2011
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| 3 | PEO2, SLC25A4
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| Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
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| Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.
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| J Neurol 255(9):1384-91. Epub 2008 Jun 30.PMID: 18575922 2008
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| 4 | SLC25A4, PEO2
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| Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
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| Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M.
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| Hum Mol Genet 14(20):3079-88. Epub 2005 Sep 9. 2005
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| 5 | C10orf2, MBS1, MBS2, MBS3, PEO2, PEO7, STBMS1
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| The genetics of strabismus.
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| Michaelides M, Moore AT.
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| J Med Genet 41(9):641-6. 2004
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| 6 | C10orf2, PEO2, PEO3, PEO4, POLG, SLC25A4
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| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
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| Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.
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| Neurology 60(8):1354-6. 2003
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| 7 | PEO2, SLC25A4
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| Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia.
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| Chen XJ.
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| Hum Mol Genet 11(16):1835-43. 2002
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| 8 | SLC25A4, PEO2
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| A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
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| Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y.
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| Ann Neurol 51(5):645-8. 2002
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| 9 | C10orf2, PEO2, PEO7
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| Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.
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| van Goethem G, Lofgren A, Martin JJ, van Broeckhoven C.
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| J Med Genet 37(7):547-8. No abstract available. 2000
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| 10 | PEO2
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| A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External Ophthalmoplegia.
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| Kaukonen J, et al.
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| Am J Hum Genet 65(1):256-261. No abstract available 1999
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