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The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion |
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| Authors: | M Koenig A H Beggs M Moyer S Scherpf K Heindrich T Bettecken G Meng C R Müller M Lindl?f H Kaariainen A de la Chapelle A Kiuru M-L Savontaus H Gilgenkrantz D Récan J Chelly J-C Kaplan A E Covone N Archidiacono G Romeo S Liechti-Gallati V Schneider S Braga H Moser B T Darras P Murphy U Francke J D Chen G Morgan M Denton C R Greenberg K Wrogemann L A J Blonden H M B van Paassen G J B van Ommen L M Kunkel |
| Affiliation: | Division of Genetics, Howard Hughes Medical Institute, Children's Hospital, Boston. |
| 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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