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Results 1 - 5 of 5 for Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
  1. Progressive external ophthalmoplegia 
    ... gov PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  2. 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
  3. 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
  4. 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
  5. Ataxia neuropathy spectrum 
    ... of the condition that is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. ANS MIRAS Mitochondrial recessive ataxia syndrome SANDO Sensory ataxia neuropathy dysarthria ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics