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Results 1 - 5 of 5 for Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  1. ... PEOB1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 PubMed Chan SS, Longley ...
  2. ... 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. ...
  3. ... Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia ... doi: 10.1385/NMM:3:3:129. Citation on PubMed
  4. ... droop (ptosis). When caused by SLC25A4 gene mutations, progressive external ... amount of DNA, known as mitochondrial DNA (mtDNA), which is essential ...
  5. ... M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59-67. doi: 10.1007/s10863-008-9130- ...