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Results 1 - 9 of 9 for Mitochondrial DNA depletion syndrome
  1. MPV17 gene 
    ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and neurological ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  2. 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
  3. FBXL4 gene 
    ... El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam MP, Feldman J, ... in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr;91(4):634-639. ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  4. 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
  5. SUCLG1 gene 
    ... PubMed 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
  6. SUCLA2 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [ ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics
  7. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), a ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene mutations ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  8. TWNK gene 
    ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. POLG gene 
    ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition DNA polymerase subunit gamma-1 mitochondrial DNA polymerase catalytic subunit PolG, catalytic subunit PolG- ...
    https://medlineplus.gov/genetics/gene/polg - Genetics