Acta Neuropathologica

, Volume 81, Issue 1, pp 84–88 | Cite as

Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency

  • H. Carrier
  • I. Maire
  • C. Vial
  • G. Rambaud
  • F. Flocard
  • A. Flechaire
Case Reports


The symptoms of a myopathy permanently affecting limb girdle muscles are reported in a 31-year-old woman who has been presenting an exertional muscle pain syndrome with myoglobinuria for 20 years. Investigations revealed a slightly decreased utilization of glycogen in muscle, while its storage affected only rare type 2 fibers. Active phosphorylase was undetectable and phosphorylase b kinase activity was clearly decreased in muscle cells, but normal in erythocytes, lymphocytes and cultured fibroblasts.

Key words

Phosphorylase b kinase Exertional muscle pain syndrome 


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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • H. Carrier
    • 1
  • I. Maire
    • 2
  • C. Vial
    • 3
  • G. Rambaud
    • 4
  • F. Flocard
    • 5
  • A. Flechaire
    • 5
  1. 1.Department de Recherches Neuromusculaires (INSERM U.52) du Laboratoire d'Anatomie-PathologiqueFaculté de Médecine CarrelLyon Cedex 8France
  2. 2.Centre d'Etudes des Maladies MetaboliquesHôpital DebrousseLyonFrance
  3. 3.Service d'ElectromyographieHôpital NeurologiqueLyon
  4. 4.Service de NeurologieCentre Hospitalier de ChambéryLyonFrance
  5. 5.Services de Neurologie et de Médecine InterneHôpital d'Instruction des Armées DesgenettesLyon

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