Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/24
Title: Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells
Authors: Pešović, Jovan 
Perić, Stojan
Brkušanin, Miloš 
Brajušković, Goran 
Rakočević-Stojanović, Vidosava
Savić Pavićević, Dušanka 
Keywords: CTG expansion;DMPK;age at onset;myotonic dystrophy 1;repeat interruptions;somatic instability
Issue Date: 27-Nov-2018
Journal: Frontiers in genetics
Abstract: 
CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. A large proportion of variability of somatic instability is explained by expansion size and patient's age at sampling, while individual-specific differences are attributed to additional factors. The age at onset is extremely variable in DM1, and inversely correlates with the e...
URI: https://biore.bio.bg.ac.rs/handle/123456789/24
ISSN: 1664-8021
DOI: 10.3389/fgene.2018.00601
Appears in Collections:Journal Article

Files in This Item:
File Description SizeFormat Existing users please
fgene-09-00601.pdf3.89 MBAdobe PDF
    Request a copy
Show full item record

SCOPUSTM   
Citations

36
checked on Apr 5, 2025

Page view(s)

11
checked on Apr 5, 2025

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.