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

M Koenig(Howard Hughes Medical Institute), Alan H. Beggs(Harvard University Press), Mary B. Moyer(Harvard University Press), S. Scherpf(Harvard University Press), K. Heindrich(Harvard University Press), Thomas Bettecken(Harvard University Press), Gerhard Meng(Harvard University Press), C. R. Müller(Harvard University Press), Mikael Lindlöf(Harvard University Press), H Kääriäinen(Harvard University Press), A de la Chapellet(Harvard University Press), A Kiuru(Harvard University Press), M L Savontaus(Harvard University Press), Hélène Gilgenkrantz(Harvard University Press), Dominique Récan(Harvard University Press), Jamel Chelly(Harvard University Press), J.‐C. Kaplan(Harvard University Press), Angela Elvira Covone(Istituto Giannina Gaslini), Nicoletta Archidiacono(Harvard University Press), G. Romeo, S Liechti-Gailati, Volker Schneider, Suzanne Braga, Hans Moser, Basil T. Darras, Patricia D. Murphy, Uta Francke, J. D. Chen, Gareth J. Morgan, M. J. Denton, C. R. Greenberg, Klaus Wrogemann, Lau A.J. Blonden, H.M.B. van Paassen, G.J.B. van Ommen, Louis M. Kunkel
PubMed
October 1, 1989
Cited by 961Open Access

Abstract

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 phenotype and type of deletion mutation is in agreement with the "reading frame" theory in 92% of cases and is of diagnostic and prognostic significance. The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.

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