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 | Size | Format | Existing users please |
---|---|---|---|---|
fgene-09-00601.pdf | 3.89 MB | Adobe PDF | Request a copy |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.