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Results 1 - 3 of 3 for Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  1. RRM2B gene 
    ... A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009. ...
    https://medlineplus.gov/genetics/gene/rrm2b - 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 
    ... 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