Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy

  • Eric P. Hoffman
  • James Giron
Part of the Methods in Molecular Medicine book series (MIMM, volume 43)


The large majority of female carriers (heterozygotes) of Duchenne or Becker muscular dystrophies (DMD/BMD) show no overt clinical symptoms. Although most carriers have been reported to have heart abnormalities by imaging technologies (echocardiography), the majority of female carriers do not show overt cardiac dysfunction (1, 2, 3).


Genetic Counseling Muscle Biopsy Serum Creatine Kinase Female Carrier Dystrophin Gene 
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Copyright information

© Humana Press Inc., Totowa, NJ 2001

Authors and Affiliations

  • Eric P. Hoffman
    • 1
  • James Giron
    • 1
  1. 1.Department of Molecular GeneticsChildren′s Research InstituteWashington, DCUSA

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