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Results 11 - 20 of 27 for Depletion of mitochondrial DNA in muscle tissue
  1. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    FBXL4-related encephalomyopathic ... mtDNA depletion syndrome have weak muscle tone (hypotonia) and a failure to ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  2. RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
    RRM2B-related mitochondrial DNA ... also have a kidney dysfunction known as renal tubulopathy.Infants with RRM2B-MDS ...
    https://medlineplus.gov/...halomyopathic-form-with-renal-tubulopathy - Genetics
  3. SUCLG1-related mitochondrial DNA depletion syndrome 
    SUCLG1-related mitochondrial DNA ... mtDNA depletion syndrome often have weak muscle tone (hypotonia). They typically have ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - 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. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links
  6. SUCLG1 gene 
    The SUCLG1 gene provides instructions for making one part (the alpha subunit) of an enzyme called succinyl-CoA ligase. The alpha subunit is used to make two ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  7. SUCLA2 gene 
    The SUCLA2 gene provides instructions for making one part (the beta subunit) of an enzyme called succinyl-CoA ligase. The body makes two slightly different ...
    https://medlineplus.gov/genetics/gene/sucla2 - 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. 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
  10. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
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