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Results 1 - 10 of 20 for Mitochondrial DNA depletion syndrome
  1. SUCLA2-related mitochondrial DNA depletion syndrome 
    SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  2. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... condition. Fatal infantile lactic acidosis with methylmalonic aciduria Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MTDPS9 Succinate- ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  3. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  4. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).The ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  5. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - 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 
    ... symptoms of the condition. DGUOK deficiency DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome 3 (hepatocerebral ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  8. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  9. 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
  10. 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
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