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Results 1 - 10 of 12 for Mitochondrial depletion
  1. MPV17 gene 
    ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and ... the MPV17 protein that cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, including the R50Q mutation, impair protein function ...
    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): ... 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
  3. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is ... mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557- ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  4. SUCLG1 gene 
    ... PubMed El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar ... A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet. 2007 Aug;81(2): ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  5. RRM2B gene 
    ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS), ... thought to underlie the signs and symptoms of mitochondrial DNA depletion syndrome. It is unclear why some RRM2B gene ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  6. 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
  7. 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
  8. TWNK gene 
    ... mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; ... JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial ... complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23): ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. SLC25A19 gene 
    ... Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl ...
    https://medlineplus.gov/genetics/gene/slc25a19 - Genetics
  10. TYMP gene 
    ... to become unstable. In people with MNGIE disease, mitochondria may also have less mtDNA than usual (mtDNA depletion). These genetic changes impair the normal function of ...
    https://medlineplus.gov/genetics/gene/tymp - Genetics
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