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Results 11 - 20 of 26 for Mitochondrial depletion
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Infantile-onset spinocerebellar ataxia 
    ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  7. 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
  8. Alpers-Huttenlocher syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed Chan SS, ... F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue ... abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48( ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  9. Amish lethal microcephaly 
    ... Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl ...
    https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly - Genetics
  10. 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
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