Neuromuscular Disorders
Volume 20, Issue 3 , Pages 198-203, March 2010

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

  • Nicole Lesko

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • Corresponding Author InformationCorresponding author. Tel.: +46 8 5858 2784; fax: +46 8 5858 2760.
    • ,
  • Karin Naess

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • Department of Clinical Sciences, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Rolf Wibom

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Nicola Solaroli

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Inger Nennesmo

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Ulrika von Döbeln

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Anna Karlsson

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • ,
  • Nils-Göran Larsson

      Affiliations

    • Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, 141 86 Stockholm, Sweden
    • Max Planck Institute for Biology of Ageing, Gleueler Strasse 50a, D-50931 Cologne, Germany

Received 12 August 2009; received in revised form 9 November 2009; accepted 25 November 2009.

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PII: S0960-8966(09)00697-X

doi:10.1016/j.nmd.2009.11.013

Neuromuscular Disorders
Volume 20, Issue 3 , Pages 198-203, March 2010

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