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Results 1 - 3 of 3 for Progressive external ophthalmoplegia with mitochondrial dna "deletions," autosomal recessive 6
  1. Progressive external ophthalmoplegia 
    ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 ... subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6. doi: 10.1074/jbc.M506762200. Epub 2005 Jul ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  2. TWNK gene 
    ... Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. Ataxia neuropathy spectrum 
    ... WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6. doi: 10.1074/jbc.M506762200. Epub 2005 Jul ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics