Enzymes of Purine Metabolism in Muscle Specimens from Patients with Duchenne-Type Muscular Dystrophy

  • C. A. van Bennekom
  • F. T. Oerlemans
  • S. Kulakowski
  • C. H. De Bruyn
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)


Duchenne-type Muscular Dystrophy (DMD), the most well-known of the muscular dystrophies, is inherited as an X-linked recessive trait (1). This implicates that it becomes manifest mainly in males and it is transmitted by asymptomatic female heterozygotes (2). The primary manifestation is progressive muscle weakness, but there are more organs that are progressively affected; e.g. heart and brain. The primary gene defect is unknown, but the evidence available at present suggests a defect of the sarcolemnal membrane (1).


Adenylate Kinase Purine Metabolism Recessive Trait Muscle Specimen Progressive Muscle Weakness 


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Copyright information

© Springer Science+Business Media New York 1984

Authors and Affiliations

  • C. A. van Bennekom
    • 1
  • F. T. Oerlemans
    • 1
  • S. Kulakowski
    • 2
  • C. H. De Bruyn
    • 1
  1. 1.Department of Human GeneticsUniversity Hospital St. RadboudNijmegenThe Netherlands
  2. 2.Institut “Les Petites Abeilles”Vlezenbeek, BrusselsBelgium

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