Neuromuscular Disorders
Volume 19, Issue 12 , Pages 837-840 , December 2009

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

  • Roberto Massa

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 06 72596004; fax: +39 06 72596022.
    • ,
  • Alessandra Tessa

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
    • ,
  • Maria Margollicci

      Affiliations

    • Laboratory of Metabolic Genetics, Department of Pediatrics, University of Siena, Siena, Italy
    • ,
  • Vanna Micheli

      Affiliations

    • Section of Biochemistry, University of Siena, Siena, Italy
    • ,
  • Andrea Romigi

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • ,
  • Giulia Tozzi

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
    • ,
  • Chiara Terracciano

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • ,
  • Fiorella Piemonte

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy
    • ,
  • Giorgio Bernardi

      Affiliations

    • Department of Neurosciences, University of Rome-Tor Vergata and IRCCS-Fondazione S. Lucia, Via Montpellier 1, I-00135 Rome, Italy
    • ,
  • Filippo M. Santorelli

      Affiliations

    • Molecular Medicine & Neurosciences, IRCCS-Bambino Gesù Hospital, Rome, Italy

Received 3 July 2009 ,Revised 10 August 2009 ,Accepted 27 August 2009.

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PII: S0960-8966(09)00594-X

doi: 10.1016/j.nmd.2009.08.013

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 837-840 , December 2009

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