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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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Tomé, Stéphanie, Gourdon, Geneviève
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7014087/
https://ncbi.nlm.nih.gov/pubmed/31936870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21020457
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