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Results 1 - 5 of 5 for Mitochondrial DNA depletion syndrome 9
  1. DGUOK gene 
    ... The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221- ... H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  2. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an ... GP. New mutations in TK2 gene associated with mitochondrial DNA depletion. ... multi-tissue mtDNA depletion syndrome. Brain. 2008 Nov;131(Pt 11):2841-50. ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  3. SUCLG1 gene 
    ... ClinVar El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  4. SUCLA2 gene 
    ... cycle. Brain. 2007 Mar;130(Pt 3):606-9. doi: 10.1093/brain/awm023. No abstract available. ... and mitochondrial DNA depletion. Am J Hum Genet. 2005 Jun;76(6): ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  5. POLG gene 
    ... WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6. doi: 10.1074/jbc. ...
    https://medlineplus.gov/genetics/gene/polg - Genetics