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Results 1 - 10 of 15 for Mitochondrial DNA Deletion Syndromes
  1. Mitochondrial DNA 
    ... homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  2. Kearns-Sayre syndrome 
    ... PubMed Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: ... analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 2008;53(7):598. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  3. Pearson syndrome 
    ... homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  4. RRM2B gene 
    ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene mutations result in deletions of genetic material from mtDNA (as in progressive ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  5. TIMM8A gene 
    ... abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.Some people with DDON syndrome have large DNA deletions that remove the entire TIMM8A gene and one ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  6. MPV17 gene 
    The MPV17 gene provides instructions for making a protein whose function is largely unknown. The MPV17 protein is located in the inner membrane of cell structures ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  7. Progressive external ophthalmoplegia 
    ... PEO Genetic Testing Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  8. TWNK gene 
    ... A, Jacobs HT, Zeviani M, Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, ... Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple ... DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. POLG gene 
    ... 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/polg - Genetics
  10. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Genetic Testing/Reference Desk ... Genetic Testing ... Newborn Screening/Reference Desk ... Newborn Screening ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
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