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Results 1 - 5 of 5 for Mitochondrial DNA depletion syndrome 6 hepatocerebral type
  1. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... Navajo neurohepatopathy Navajo neuropathy NNH Genetic Testing Registry: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Navajo neurohepatopathy National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  2. MPV17 gene 
    ... in people of Navajo ancestry, it is called Navajo neurohepatopathy.The changes in the MPV17 protein that cause ... in cells, the more severe the features of Navajo neurohepatopathy. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/mpv17 - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... DGUOK deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 PubMed Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito.2006.11. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. Infantile-onset spinocerebellar ataxia 
    ... syndrome National Organization for Rare ... severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  5. TWNK gene 
    ... of TWNK PubMed ... encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics