title: Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy.
abstract: Alterations in production of cytoskeletal protein dystrophin caused by in-frame gene mutations lead to the Becker muscular dystrophy. In this study we analyzed genotype-phenotype correlation in a group of Becker muscular dystrophy patients with deletions affecting the proximal part of dystrophin gene, encompassing exons 3-13. Four patients with deletions affecting N terminal dystrophin domain had early onset and faster progression of the disease, while three patients with deletions in the proximal part of dystrophin's rod domain had a more benign disease course. Our study suggests that proximal gene deletions in Becker muscular dystrophy have various phenotypic effects depending on the affected domain of protein dystrophin.
authors.affiliation: Institute of Biology and Human Genetics, School of Medicine, University of Belgrade, Serbia and Montenegro. novivana@eunet.yu
authors.forename: Ivana
authors.initials: I
authors.lastname: Novaković
authors.forename: Dragana
authors.initials: D
authors.lastname: Bojić
authors.forename: Slobodanka
authors.initials: S
authors.lastname: Todorović
authors.forename: Slobodan
authors.initials: S
authors.lastname: Apostolski
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Luković
authors.forename: Dejan
authors.initials: D
authors.lastname: Stefanović
authors.forename: Jelena
authors.initials: J
authors.lastname: Milasin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype
chemical_list: D016189:Dystrophin