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232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 – 18 June 2017, Heemskerk, The Netherlands

  • Carlos López-Gómez
    Affiliations
    Columbia University Irving Medical Center, New York, USA
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  • Yolanda Cámara
    Affiliations
    Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain

    Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
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  • Michio Hirano
    Affiliations
    Columbia University Irving Medical Center, New York, USA
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  • Ramon Martí
    Correspondence
    Corresponding author at: Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
    Affiliations
    Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain

    Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
    Search for articles by this author
  • on behalf of the232nd ENMC Workshop Participants

      Highlights

      • Mitochondrial DNA maintenance disorders, also known as mtDNA depletion and deletions syndrome (MDDS), constitute an expanding group of mitochondrial diseases.
      • Rapidly advancing knowledge of the pathomechanisms involved on MDDS stimulates progress towards evidence-based therapies.
      • Therapies for some MDDS forms, such as TK2 deficiency (TK2d), are already under assessment in clinical trial programs.
      • Preclinical evidence supports feasibility of gene therapy for MDDS forms such as MNGIE or TK2d.
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