| 1 | PEO4, POLG2
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| Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.
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| Martikainen MH, Hinttala R, Röyttä M, Jääskeläinen S, Wendelin-Saarenhovi M, Parkkola R, Majamaa K.
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| Neuroepidemiology 38(2):114-9. Epub 2012 Feb 24.
2012
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| 2 | C10orf2, PEO3, PEO4, POLG2
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| Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
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| Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC.
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| Hum Mol Genet 20(15):3052-66. Epub 2011 May 9.
2011
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| 3 | PEO4, POLG2
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| Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
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| Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R.
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| J Neurol 257(9):1517-23. Epub 2010 Apr 20.
2010
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| 4 | PEO4, POLG2
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| Mutant POLG2 Disrupts DNA Polymerase gamma Subunits and Causes Progressive External Ophthalmoplegia.
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| Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF.
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| Am J Hum Genet 78(6):1026-34. Epub 2006 May 4. 2006
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| 5 | PEO4
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| A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
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| Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z.
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| Brain 128(Pt 1):42-51. Epub 2004 Nov 17. 2005
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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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