Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy.
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.
Novaković
Ivana
I
Institute of Biology and Human Genetics, School of Medicine, University of Belgrade, Serbia and Montenegro. novivana@eunet.yu
Bojić
Dragana
D
Todorović
Slobodanka
S
Apostolski
Slobodan
S
Luković
Ljiljana
L
Stefanović
Dejan
D
Milasin
Jelena
J
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
D016189:Dystrophin