Corpus ID: 2883531

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

  title={The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.},
  author={M. Koenig and A. Beggs and M. Moyer and S. Scherpf and K. Heindrich and T. Bettecken and G. Meng and C. Mueller and M. Lindl{\"o}f and H. K{\aa}{\aa}ri{\aa}inen and A. de la Chapellet and A. Kiuru and M. Savontaus and H. Gilgenkrantz and D. R{\'e}can and J. Chelly and J. Kaplan and A. Covone and N. Archidiacono and G. Romeo and S. Liechti-Gailati and V. Schneider and S. Braga and H. Moser and B. Darras and P. Murphy and U. Francke and J. D. Chen and G. Morgan and M. Denton and C. Greenberg and K. Wrogemann and L. Blonden and M. van Paassen and G. van Ommen and L. Kunkel},
  journal={American journal of human genetics},
  volume={45 4},
  • M. Koenig, A. Beggs, +33 authors L. Kunkel
  • Published 1989
  • Biology, Medicine
  • American journal of human genetics
  • About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion mutation, the "reading frame" hypothesis predicts that BMD patients produce a semifunctional, internally deleted dystrophin protein, whereas DMD patients produce a severely truncated protein that would be unstable. To test the validity of this theory, we analyzed 258 independent deletions at the DMD/BMD locus. The correlation between… CONTINUE READING
    898 Citations
    Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec
    • 4
    • Highly Influenced
    Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco
    • 13
    • PDF
    A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients.
    • 1
    Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
    • 19
    • PDF
    Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
    • 11
    Molecular study of duchenne and Becker muscular dystrophies in Japanese
    • 4