Journal of Neurology

, Volume 241, Issue 5, pp 331–334 | Cite as

A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy

  • R. Gold
  • W. Kreß
  • T. Bettecken
  • H. Reichmann
  • C. R. Müller
Original Communication


We describe a family with a large duplication of exons 2–16 of the dystrophin gene. It was characterized by immunocytochemistry, field-inversion gel electrophoresis and quantitative Southern blots. Our observations are of clinical interest in that they demonstrate an intermediate disease course despite a disrupted reading frame of dystrophin as postulated from exon-intron boundaries. We discuss possible mechanisms which may explain the unusual phenotype in our patient.

Key words

Dystrophin Intragenic duplication Becker muscular dystrophy 


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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • R. Gold
    • 1
  • W. Kreß
    • 2
  • T. Bettecken
    • 2
  • H. Reichmann
    • 1
  • C. R. Müller
    • 2
  1. 1.Department of NeurologyUniversität WürzburgWürzburgGermany
  2. 2.C. R. Müller Universität WürzburgWürzburgGermany

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