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Results 1 - 8 of 8 for Depletion of mitochondrial DNA in muscle tissue
  1. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an inherited condition that causes progressive muscle weakness (myopathy), typically beginning in early childhood. About ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  2. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion ... muscle weakness (encephalomyopathy) and a problem with kidney function ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  3. 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
  4. SUCLG1 gene 
    The SUCLG1 gene provides instructions for making one part (the alpha subunit) of an enzyme called succinyl-CoA ligase. The alpha subunit is used to make two ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  5. SUCLA2 gene 
    The SUCLA2 gene provides instructions for making one part (the beta subunit) of an enzyme called succinyl-CoA ligase. The body makes two slightly different ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  6. 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
  7. FBXL4 gene 
    ... El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam MP, Feldman ... in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr;91(4):634- ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  8. POLG gene 
    ... of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA ... muscles have fundamentally distinct properties that make them selectively ...
    https://medlineplus.gov/genetics/gene/polg - Genetics