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.

References 

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  2. Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N. Engl. J. Med. 1993;329:241–245
  3. Kubisch, C., Wicklein, E.M., Jentsch, T.J., Molecular diagnosis of McArdle's disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. Hum. Mutat. 1998; 12, 27, 32.
  4. Tsujino S, Shanske S, Nonaka I, DiMauro S. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve. 1995;3:S23–S27 (Suppl.)
  5. Tsujino S, Shanske S, Nonaka I, Eto Y, Mendell JR, Fenichel GM, et al.  Three new mutations in patients with myophosphorylase deficiency (McArdle's disease). Am. J. Hum. Genet. 1994;54:44–52
  6. Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S. Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum. Mutat. 1995;6:276–277
  7. Martinuzzi A, Tsujino S, Vergani L, Schievano G, Cadaldini M, Bartoloni L, et al.  Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy. J. Neurol. Sci. 1996;137:14–19
  8. Vorgerd M, Kubisch C, Burwinkel B, Rechmann H, Mortier W, Tettenborn B, et al.  Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann. Neurol. 1998;43:326–331
  9. Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, et al.  Molecular genetic analysis of McArdle's disease in Spanish patients. Neurology. 1998;51:260–262
  10. Bruno C, Lofberg M, Tamburino L, Jankala H, Hadjigeorgiou GM, Andreu AL, et al.  Molecular characterization of McArdle's disease in two large Finnish families. J. Neurol. Sci. 1999;165:121–125
  11. Bruno C, Tamburino L, Kawashima N, Andreu AL, Shanske S, Hadjigeorgiou GM, et al.  A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease. Neuromuscular Disord. 1999;9:34–37
  12. Andreu AL, Bruno C, Tamburino L, Gamez J, Shanske S, Cervera C, et al.  A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. Neuromuscular Disord. 1999;9:171–173
  13. Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, et al.  A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimmer contact. Muscle Nerve. 1999;22:1136–1138
  14. Fernandez R, Navarro C, Andreu AL, Bruno C, Shanske S, Gamez J, et al.  A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle's disease. Arch. Neurol. 2000;57:217–219
  15. Martin MA, Rubio JC, Garcia A, Fernandez MA, Campos Y, Krawczak M, et al.  Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. Clin. Genet. 2001;59:48–51
  16. DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In:  Engel A,  Banker B editor. Myology. New York: McGraw-Hill; 1994;p. 1554–1576
  17. Hirano M, DiMauro S. Metabolic myopathies. In:  Younger DS editors. Motor disorder. Philadelphia: Lippincott Williams & Wilkins; 1999;p. 123–137
  18. Papadimitriou A, Manta P, Divari R, Karabetsos A, Papadimitriou E, Bresolin N. McArdle's disease: two clinical expressions in the same pedigree. J. Neurol. 1990;237:267–270
  19. El-Schahawi M, Tsujino S, Shanske S, DiMauro S. Diagnosis of McArdle's disease by molecular genetic analysis of blood. Neurology. 1996;47:579–580
  20. DiMauro S, Bruno C. Glycogen storage diseases of muscle. Curr. Opin. Neurol. 1998;11:477–484
  21. Sugie H, Sugie Y, Ito M, Fukuda T, Nonaka I, Igarashi Y. Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single codon deletion in exon 17 is the predominant mutation. Clin. Chim. Acta. 1995;236:81–86

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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