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.
Keywords:
dystrophin / gene / proximal deletions / BMD
Source:
Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus, 2005, 1048, 406-410
TY - JOUR
AU - Novaković, I.
AU - Bojić, D
AU - Todorović, S
AU - Apostolski, Slobodan
AU - Luković, L
AU - Stefanović, D
AU - Milašin, Jelena
PY - 2005
UR - https://smile.stomf.bg.ac.rs/handle/123456789/1251
AB - 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.
PB - New York Acad Sciences, New York
T2 - Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus
T1 - Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy
VL - 1048
SP - 406
EP - 410
DO - 10.1196/annals.1342.050
ER -
@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"
}
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 Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus
New York Acad Sciences, New York., 1048, 406-410.
https://doi.org/10.1196/annals.1342.050
Novaković I, Bojić D, Todorović S, Apostolski S, Luković L, Stefanović D, Milašin J. Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy. in Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus. 2005;1048:406-410.
doi:10.1196/annals.1342.050 .
Novaković, I., Bojić, D, Todorović, S, Apostolski, Slobodan, Luković, L, Stefanović, D, Milašin, Jelena, "Proximal dystrophin gene deletions and protein alterations in Becker muscular dystrophy" in Biophysics from Molecules to Brain: in Memory of Radoslav K. Andjus, 1048 (2005):406-410,
https://doi.org/10.1196/annals.1342.050 . .
