Neuromuscular Disorders
Volume 20, Issue 2 , Pages 125-127 , February 2010

Muscle phosphorylase b kinase deficiency revisited

  • Andoni Echaniz-Laguna

      Affiliations

    • Département de Neurologie, Hôpital Civil, BP426, 67091 Strasbourg, France
    • Corresponding Author InformationCorresponding author. Address: Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l’Hôpital, BP426, 67091 Strasbourg, France. Tel.: +33 (0)3 88 11 66 62; fax: +33 (0)3 88 11 57 81.
    • ,
  • Hasan O. Akman

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, USA
    • ,
  • Michel Mohr

      Affiliations

    • Département d’Anatomie Pathologique, Hôpital Civil, BP426, 67091 Strasbourg, France
    • ,
  • Christine Tranchant

      Affiliations

    • Département de Neurologie, Hôpital Civil, BP426, 67091 Strasbourg, France
    • ,
  • Violaine Talmant-Verbist

      Affiliations

    • Département de Neurologie, Hôpital Civil, BP426, 67091 Strasbourg, France
    • ,
  • Marie-Odile Rolland

      Affiliations

    • Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, CHU Lyon, 69677 Bron, France
    • ,
  • Salvatore Dimauro

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, USA

Received 4 May 2009 ,Revised 24 August 2009 ,Accepted 4 November 2009.

References 

  1. Chen Y, Burchell A. Glycogen storage diseases. In:  Scriver C,  Beaudet A,  Sly W,  Valle D editor. The metabolic and molecular basis of inherited disease. 7th ed.. New York: McGraw-Hill; 2007;p. 935–966
  2. Orngreen MC, Schelhaas HJ, Jeppesen TD, et al. Is muscle glycogenosis impaired in X-linked phosphorylase b kinase deficiency?. Neurology. 2008;70:1876–1882
  3. Haller RG. Fueling around with glycogen. The implications of muscle phosphorylase b kinase deficiency. Neurology. 2008;70:1872–1873
  4. Harmann B, Zander NF, Kilimann MW. Isoform diversity of phosphorylase kinase α and β subunits generated by alternative RNA splicing. J Biol Chem. 1991;266:15631–15637
  5. Martini C, Ciana G, Benettoni A, et al. Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology. 2001;57:906–908
  6. Servidei S, Bonilla E, Diedrich RG, et al. Fatal infantile form of phosphofructokinase deficiency. Neurology. 1986;36:1465–1470
  7. Moerman P, Lammens M, Fryns JP, Lemmens F, Lauweryns JM. Fetal akinesia sequence caused by glycogenosis type VII. Genet Couns. 1995;6:15–20
  8. Burwinkel B, Amat L, Gray RG, et al. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet. 1998;102:423–429

PII: S0960-8966(09)00686-5

doi: 10.1016/j.nmd.2009.11.004

Neuromuscular Disorders
Volume 20, Issue 2 , Pages 125-127 , February 2010

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