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Results 1 - 10 of 15 for Depletion of mitochondrial DNA in liver
  1. 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 and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  2. MPV17 gene 
    ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and neurological problems that begin in infancy. ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... in the amount of mtDNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the brain, liver, and muscle dysfunction associated with deoxyguanosine kinase deficiency. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. TWNK gene 
    ... few families, TWNK gene mutations lead to mtDNA depletion syndrome, hepatocerebral form. People with this condition ... PubMed MITOCHONDRIAL DNA ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. 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
  6. 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
  7. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... Registry: Mitochondrial DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  8. 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
  9. 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
  10. 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
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