Article
Proximal dystrophin gene deletions and protein alterations in becker muscular dystrophy.
Annals of the New York Academy of Sciences - 1 Jun 2005
Novaković Ivana, Bojić Dragana, Todorović Slobodanka, Apostolski Slobodan, Luković Ljiljana, Stefanović Dejan, Milasin Jelena
Abstract excerpt
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...
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