The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
| Autor: | Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kaariainen, H., La Chapelle, A., Kiuru, A., Savontaus, M. -L, Gilgenkrantz, H., Récan, D., Chelly, J., Kaplan, J. -C, Angela Elvira Covone, Archidiacono, N., Romeo, G., Liechti-Gailati, S., Schneider, V., Braga, S., Moser, H., Darras, B. T., Murphy, R., Francke, U., Chen, J. D., Morgan, G., Denton, M., Greenberg, C. R., Wrogemann, K., Blonden, L. A. J., Paassen, H. M. B., Ommen, G. J. B., Kunkel, L. M. |
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| Rok vydání: | 1989 |
| Předmět: |
musculoskeletal diseases
congenital hereditary and neonatal diseases and abnormalities Reading Frames Adolescent Transcription Genetic Restriction Mapping Deoxyribonuclease HindIII Exons Original Articles musculoskeletal system Muscular Dystrophies Dystrophin Mutation Humans Chromosome Deletion Cloning Molecular Child DNA Probes |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0002-9297 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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