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Xu, R. Progressive External Ophthalmoplegia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5459 (accessed on 21 September 2026).
Xu R. Progressive External Ophthalmoplegia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5459. Accessed September 21, 2026.
Xu, Rita. "Progressive External Ophthalmoplegia" Encyclopedia, https://encyclopedia.pub/entry/5459 (accessed September 21, 2026).
Xu, R. (2020, December 24). Progressive External Ophthalmoplegia. In Encyclopedia. https://encyclopedia.pub/entry/5459
Xu, Rita. "Progressive External Ophthalmoplegia." Encyclopedia. Web. 24 December, 2020.
Progressive External Ophthalmoplegia
Edit

Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time.

genetic conditions

References

  1. Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the humanmitochondrial DNA polymerase (POLG) compromises catalytic efficiency andinteraction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6.
  2. Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16[updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK26471/
  3. Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, Spelbrink JN.Twinkle mutations associated with autosomal dominant progressive externalophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359.
  4. Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNAmaintenance. Science. 2000 Aug 4;289(5480):782-5.
  5. Koga Y, Akita Y, Takane N, Sato Y, Kato H. Heterogeneous presentation inA3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. Arch Dis Child. 2000May;82(5):407-11.
  6. Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations.Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.
  7. Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, EvansJC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, HalfpennyCA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R,Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults withRRM2B-related mitochondrial disease have distinct clinical and molecularcharacteristics. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231.
  8. Sharer JD. The adenine nucleotide translocase type 1 (ANT1): a new factor inmitochondrial disease. IUBMB Life. 2005 Sep;57(9):607-14. Review.
  9. Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S,Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, CroxenR, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C. Humanmitochondrial DNA deletions associated with mutations in the gene encodingTwinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet.2001 Jul;28(3):223-31. Erratum in: Nat Genet 2001 Sep;29(1):100.
  10. Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insightsfrom DNA polymerase γ mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi:10.1007/s00018-010-0530-4.
  11. Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. Aheterozygous truncating mutation in RRM2B causes autosomal-dominant progressiveexternal ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet. 2009Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009.
  12. Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive externalophthalmoplegia characterized by multiple deletions of mitochondrial DNA:unraveling the pathogenesis of human mitochondrial DNA instability and theinitiation of a genetic classification. Neuromolecular Med. 2003;3(3):129-46.Review.
  13. Yu Wai Man CY, Chinnery PF, Griffiths PG. Extraocular muscles havefundamentally distinct properties that make them selectively vulnerable tocertain disorders. Neuromuscul Disord. 2005 Jan;15(1):17-23.Review.
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