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Results 1 - 5 of 5 for Mitochondrial DNA Deletion Syndromes
  1. 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
  2. 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
  3. 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
  4. Histiocytosis-lymphadenopathy plus syndrome 
    ... of DNA found in these structures, known as mitochondrial DNA.The SLC29A3 gene variants involved in histiocytosis-lymphadenopathy plus syndrome reduce or eliminate the activity of the ENT3 ...
    https://medlineplus.gov/...stiocytosis-lymphadenopathy-plus-syndrome - Genetics
  5. Ataxia neuropathy spectrum 
    ... dysarthria, and ophthalmoparesis Sensory ataxic neuropathy-dysarthria-ophthalmoparesis ... MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics