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Results 1 - 6 of 6 for Mitochondrial DNA depletion syndrome 13
  1. 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 DNA ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  2. MPV17 gene 
    ... Di Mauro S, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108. Citation ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  3. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... Di Mauro S, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108. Citation ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  4. Alpers-Huttenlocher syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed Chan SS, Longley ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  5. POLG gene 
    ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition DNA polymerase subunit gamma-1 mitochondrial DNA polymerase catalytic subunit PolG, catalytic subunit PolG- ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  6. Ataxia neuropathy spectrum 
    ... dysarthria, and ophthalmoparesis Sensory ataxic neuropathy-dysarthria-ophthalmoparesis ... MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics