@article{
author = "Novaković, I. and Bojić, D and Todorović, S and Apostolski, Slobodan and Luković, L and Stefanović, D and Milašin, Jelena",
year = "2005",
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 musculaudystrophy 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.",
publisher = "New York Acad Sciences, New York",
journal = "Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus",
title = "Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy",
volume = "1048",
pages = "406-410",
doi = "10.1196/annals.1342.050"
}