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Results 21 - 27 of 27 for Depletion of mitochondrial DNA in muscle tissue
  1. FBXL4 gene 
    ... El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Adam MP, Feldman ... in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017 Apr;91(4):634- ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  2. 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
  3. Alpers-Huttenlocher syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  4. Myoclonic epilepsy myopathy sensory ataxia 
    ... γ that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  5. Childhood myocerebrohepatopathy spectrum 
    ... γ that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a ...
    https://medlineplus.gov/.../childhood-myocerebrohepatopathy-spectrum - Genetics
  6. POLG gene 
    ... of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA ... muscles have fundamentally distinct properties that make them selectively ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  7. Ataxia neuropathy spectrum 
    ... F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: ... DNA level on cellular energy metabolism: implications for mitochondrial ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
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