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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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Bibliografski detalji
Izdano u:Int J Mol Sci
Glavni autori: Tomé, Stéphanie, Gourdon, Geneviève
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Online pristup: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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