Publication:

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO (2010)

Author(s): Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW

      • Date: 01-05-2010
      • Journal: Neurology
      • Volume: 74
      • Issue: 20
      • Pages: 1619-1626
      • Publisher: Lippincott Williams & Wilkins
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA MITOCHONDRIAL-DNA DELETIONS TWINKLE GENE MUTATION POLYMERASE-GAMMA MUTATIONS MULTIPLE DELETIONS PHENOTYPIC SPECTRUM MTDNA MAINTENANCE OPTIC ATROPHY DEPLETION PARKINSONISM

      Staff

      Professor Patrick Chinnery
      Institute Director