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Results 1 - 10 of 26 for Mitochondrial depletion
  1. 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
  2. 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
  3. SUCLG1-related mitochondrial DNA depletion syndrome 
    SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  4. 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
  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 ...
    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: ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  7. Deoxyguanosine kinase deficiency 
    ... decrease in the amount of mtDNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body' ... symptoms of the condition. DGUOK deficiency DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome 3 ( ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  8. 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
  9. 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
  10. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
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