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Results 1 - 6 of 6 for Mitochondrial DNA depletion "syndrome," hepatocerebral form
  1. Deoxyguanosine kinase deficiency 
    ... symptoms of the condition. DGUOK deficiency DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Mitochondrial ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  2. DGUOK gene 
    ... DiMauro S. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol. 2005 May;62(5):745-7. doi: 10.1001/archneur.62.5.745. Citation on PubMed Mandel H, ... with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001 Nov;29(3): ...
    https://medlineplus.gov/genetics/gene/dguok - Genetics
  3. MPV17 gene 
    ... S, Ganesh J, Di Mauro S, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol. 2008 Aug;65( ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  4. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... S, Ganesh J, Di Mauro S, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol. 2008 Aug;65( ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  5. 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
  6. Infantile-onset spinocerebellar ataxia 
    ... depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 PubMed Finsterer J. Ataxias with autosomal, ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics