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Results 1 - 4 of 4 for Progressive external ophthalmoplegia with mitochondrial DNA "deletions," autosomal recessive 2
  1. Progressive external ophthalmoplegia 
    ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  2. TWNK gene 
    ... Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. SLC25A4 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/slc25a4 - Genetics
  4. Ataxia neuropathy spectrum 
    ... Ceuterick C, De Jonghe P, Van Broeckhoven C. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord. 2003 Feb;13(2):133-42. doi: 10.1016/s0960-8966(02) ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics