| Literature DB >> 2491009 |
M Koenig1, A H Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, G Meng, C R Müller, M Lindlöf, H Kaariainen, A de la Chapellet, A Kiuru, M L Savontaus, H Gilgenkrantz, D Récan, J Chelly, J C Kaplan, A E Covone, N Archidiacono, G Romeo, S Liechti-Gailati, 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 Blonden, M B van Paassen, G J van Ommen, L M Kunkel.
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.Entities:
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Year: 1989 PMID： 2491009 PMCID： PMC1683519
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025