DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cytosine thymine guanine (CTG) repeat expansion in the DMPK gene. This disease is characterized by high clinical and genetic variability, leading to some difficulties in the diagnosis and prognosis of DM1. Bette...

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Detalles Bibliográficos
Autores principales: Tomé, Stéphanie, Gourdon, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014087/
https://www.ncbi.nlm.nih.gov/pubmed/31936870
http://dx.doi.org/10.3390/ijms21020457
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author Tomé, Stéphanie
Gourdon, Geneviève
author_facet Tomé, Stéphanie
Gourdon, Geneviève
author_sort Tomé, Stéphanie
collection PubMed
description Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cytosine thymine guanine (CTG) repeat expansion in the DMPK gene. This disease is characterized by high clinical and genetic variability, leading to some difficulties in the diagnosis and prognosis of DM1. Better understanding the origin of this variability is important for developing new challenging therapies and, in particular, for progressing on the path of personalized treatments. Here, we reviewed CTG triplet repeat instability and its modifiers as an important source of phenotypic variability in patients with DM1.
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spelling pubmed-70140872020-03-09 DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies Tomé, Stéphanie Gourdon, Geneviève Int J Mol Sci Review Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cytosine thymine guanine (CTG) repeat expansion in the DMPK gene. This disease is characterized by high clinical and genetic variability, leading to some difficulties in the diagnosis and prognosis of DM1. Better understanding the origin of this variability is important for developing new challenging therapies and, in particular, for progressing on the path of personalized treatments. Here, we reviewed CTG triplet repeat instability and its modifiers as an important source of phenotypic variability in patients with DM1. MDPI 2020-01-10 /pmc/articles/PMC7014087/ /pubmed/31936870 http://dx.doi.org/10.3390/ijms21020457 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Tomé, Stéphanie
Gourdon, Geneviève
DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
title DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
title_full DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
title_fullStr DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
title_full_unstemmed DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
title_short DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
title_sort dm1 phenotype variability and triplet repeat instability: challenges in the development of new therapies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014087/
https://www.ncbi.nlm.nih.gov/pubmed/31936870
http://dx.doi.org/10.3390/ijms21020457
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