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Results 1 - 5 of 5 for Progressive external ophthalmoplegia with mitochondrial DNA "deletions," autosomal dominant 5
  1. Progressive external ophthalmoplegia 
    ... A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant ... DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  2. 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.2009.07.009. ...
    https://medlineplus.gov/genetics/gene/rrm2b - 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. TWNK 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/twnk - Genetics
  5. Ataxia neuropathy spectrum 
    ... 59-67. doi: 10.1007/s10863-008-9130-5. Epub 2008 Apr 16. Citation on PubMed Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase gamma ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics