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Results 1 - 7 of 7 for Mitochondrial DNA depletion syndrome 18
  1. 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. ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  2. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... j.nmd.2009.11.013. Epub 2010 Jan 18. Citation on PubMed Marti ... of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  3. 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
  4. 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
  5. TK2 gene 
    ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an ... mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord. 2008 Jul;18(7):557-60. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/tk2 - Genetics
  6. 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
  7. 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