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Results 1 - 3 of 3 for Progressive external ophthalmoplegia with mitochondrial DNA "deletions," autosomal dominant 1
  1. TWNK gene 
    ... 90058. Erratum In: Nat Genet 2001 Sep;29(1):100. Citation on PubMed 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
  2. SLC25A4 gene 
    ... droop (ptosis). When caused by SLC25A4 gene mutations, progressive external ... amount of DNA, known as mitochondrial DNA (mtDNA), which is essential ...
    https://medlineplus.gov/genetics/gene/slc25a4 - Genetics
  3. RRM2B gene 
    ... a cytosolic process in mammalian cells independently of DNA damage. Proc Natl Acad Sci U S ... with multiple mtDNA deletions. Am J Hum Genet. 2009 Aug;85(2): ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics