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Results 1 - 8 of 8 for Mitochondrial DNA depletion syndrome 1
  1. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  2. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... neurohepatopathy is estimated to occur in 1 in 1,600 newborns. As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - 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. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... depletion syndrome National Organization for Rare Disorders (NORD) ... 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. ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  5. 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 ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  6. Infantile-onset spinocerebellar ataxia 
    ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  7. 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
  8. 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