Related Experiment Video
Updated: Aug 14, 2026

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy
Edo M Hoogerwaard1, Ieke B Ginjaar, Egbert Bakker
1Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. ehoogerwaard@hccnet.nl
Abstract:
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.

