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Results 1 - 10 of 14 for Mitochondrial DNA depletion syndrome 9
  1. Succinate-CoA ligase deficiency 
    ... Succinate-coenzyme A ligase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 Genetic Testing Registry: Mitochondrial DNA depletion syndrome, encephalomyopathic ...
    https://medlineplus.gov/.../succinate-coa-ligase-deficiency - Genetics
  2. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  3. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    ... Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  4. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION SYNDROME 4B ... disorder. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1217-25. doi: 10.1081/NCN-200027485. Citation ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  5. Alpers-Huttenlocher syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov ... 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/.../condition/alpers-huttenlocher-syndrome - Genetics
  6. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 Genetic Testing Registry: Mitochondrial ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  7. Deoxyguanosine kinase deficiency 
    ... signs and symptoms of the condition. DGUOK-related mitochondrial DNA depletion syndrome Hepatocerebral mitochondrial DNA depletion syndrome Mitochondrial DNA depletion ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  8. 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
  9. 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
  10. 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
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