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From the Department of Neurology (Drs. Hoogerwaard and de Visser), Academic Medical Centre, University of Amsterdam; and Department of Human and Clinical Genetics (Drs. Ginjaar and Bakker), Leiden University Medical Center, The Netherlands. Dr. Hoogerwaard is currently with the Department of Neurology, Rijnstate Hospital, Arnhem.
Address correspondence and reprint requests to Dr. Edo M. Hoogerwaard, Rijnstate Hospital, PO Box 9555, 6800 TA Arnhem, The Netherlands; e-mail: ehoogerwaard{at}hccnet.nl
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 27 issue to find the title link for this article.
Disclosure: The authors report no conflicts of interest.
Received April 4, 2003. Accepted in final form August 29, 2005.
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