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Origin of dystrophin gene deletions in Duchenne and Becker muscular dystrophy patients from Ukraine

Authors :
M. V. Nechyporenko
L. A. Livshits
S. A. Kravchenko
Source :
Cytology and Genetics. 51:185-191
Publication Year :
2017
Publisher :
Allerton Press, 2017.

Abstract

The results of the analysis of exon deletions and duplications in the dystrophin gene sequences from 121 Duchenne and Becker muscular dystrophy patients from Ukraine are presented. It is shown that the level of de novo deletions in these families reaches 53%, and most of the deletions are localized in the distal part of the gene. It is important to take into account these data in genetic counseling to assess the risk of birth of patients with DMD/BMD, including in prenatal diagnostics, in families with Duchenne and Becker muscular dystrophy patients.

Details

ISSN :
19349440 and 00954527
Volume :
51
Database :
OpenAIRE
Journal :
Cytology and Genetics
Accession number :
edsair.doi...........01513577fc7fba653846c06236c34db9
Full Text :
https://doi.org/10.3103/s0095452717030057