title: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
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.
authors.affiliation: Division of Genetics, Howard Hughes Medical Institute, Children's Hospital, Boston.
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authors.lastname: Kaariainen
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authors.lastname: de la Chapellet
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authors.initials: JC
authors.lastname: Kaplan
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authors.lastname: Covone
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authors.lastname: Archidiacono
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authors.lastname: Romeo
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authors.lastname: Liechti-Gailati
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authors.lastname: Schneider
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authors.lastname: Braga
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authors.lastname: Moser
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authors.lastname: Darras
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authors.lastname: Murphy
authors.forename: U
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authors.lastname: Francke
authors.forename: J D
authors.initials: JD
authors.lastname: Chen
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authors.lastname: Morgan
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authors.lastname: Denton
authors.forename: C R
authors.initials: CR
authors.lastname: Greenberg
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authors.lastname: Wrogemann
authors.forename: L A
authors.initials: LA
authors.lastname: Blonden
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authors.initials: MB
authors.lastname: van Paassen
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authors.initials: GJ
authors.lastname: van Ommen
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authors.initials: LM
authors.lastname: Kunkel
mesh_terms: D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D015342:DNA Probes; D015247:Deoxyribonuclease HindIII; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D006801:Humans; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D016364:Reading Frames; D015183:Restriction Mapping; D014158:Transcription, Genetic
chemical_list: D015342:DNA Probes; D016189:Dystrophin; D015247:Deoxyribonuclease HindIII