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. © 2005 New York Academy of Sciences.
CITATION STYLE
Novaković, I., Bojić, D., Todorović, S., Apostolski, S., Luković, L., Stefanović, D., & Milašin, J. (2005). Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy. In Annals of the New York Academy of Sciences (Vol. 1048, pp. 406–410). New York Academy of Sciences. https://doi.org/10.1196/annals.1342.050
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