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Results 1 - 3 of 3 for Mitochondrial DNA depletion syndrome 7 hepatocerebral type
  1. 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, X- ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  2. TWNK gene 
    ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with ...
    https://medlineplus.gov/genetics/gene/twnk - 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. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics