title: Becker muscular dystrophy: correlation of deletion type with clinical severity.
abstract: Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these families. Thirty-four (83%) of the deletions started in the same intron near the centre of the gene, and although there was no precise correlation between clinical severity and deletion pattern, the commonest deletion pattern, which was present in 49% of all deletion families, is associated with a mild phenotype.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
authors.forename: A M
authors.initials: AM
authors.lastname: Norman
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: H M
authors.initials: HM
authors.lastname: Kingston
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D015342:DNA Probes; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010641:Phenotype
chemical_list: D015342:DNA Probes