The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

The number of cytosine-thymine-guanine (CTG) repeats (‘CTG expansion size’) in the 3′untranslated region (UTR) region of the <i>dystrophia myotonica</i>-protein kinase (<i>DMPK</i>) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of diseas...

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Bibliographic Details
Main Authors: Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J. Magaña, Nadia M. Murillo-Melo, Alejandro Lucia, Darren G. Monckton, Sarah A. Cumming, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Genes
Subjects:
CTG expansion size
myotonic dystrophy type 1
long PCR
small pool-PCR
age of disease onset
Online Access:https://www.mdpi.com/2073-4425/11/7/757

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