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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2020
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| 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 |