Journal of the Neurological Sciences
Volume 194, Issue 1 , Pages 83-86 , 15 February 2002

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

  • Georgios M Hadjigeorgiou

      Affiliations

    • Department of Neurology, University of Thessaly, Larissa, Greece
    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
    • ,
  • Alexandros Papadimitriou

      Affiliations

    • Department of Neurology, University of Thessaly, Larissa, Greece
    • ,
  • Olimpia Musumeci

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
    • ,
  • Konstantinos Paterakis

      Affiliations

    • Department of Neurology, University of Thessaly, Larissa, Greece
    • ,
  • Konstantina Flabouriari

      Affiliations

    • Department of Neurology, University of Thessaly, Larissa, Greece
    • ,
  • Sara Shanske

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
    • ,
  • Salvatore DiMauro

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +1-212-305-1664; fax: +1-212-305-3986
    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA

Received 24 August 2001 ,Accepted 30 October 2001.

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PII: S0022-510X(01)00662-1

Journal of the Neurological Sciences
Volume 194, Issue 1 , Pages 83-86 , 15 February 2002

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