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Results 1 - 5 of 5 for Depletion of mitochondrial DNA in liver
  1. MPV17 gene 
    ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and neurological problems that begin in infancy. ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  2. TWNK gene 
    ... few families, TWNK gene mutations lead to mtDNA depletion syndrome, hepatocerebral form. People with this condition ... PubMed MITOCHONDRIAL DNA ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. DGUOK gene 
    ... The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3): ... F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  4. SUCLA2 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May ... CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6): ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  5. POLG gene 
    ... typically have mtDNA depletion in muscle, brain, or liver tissue. MtDNA depletion impairs ... disease More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/polg - Genetics