DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies
Inserm UMR 974, Sorbonne Université, Centre de Recherche en Myologie, Association Institut de Myologie, F-75013 Paris, France
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Int. J. Mol. Sci. 2020, 21(2), 457; https://doi.org/10.3390/ijms21020457
Received: 24 September 2019
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Revised: 2 January 2020
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Accepted: 8 January 2020
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Published: 10 January 2020
(This article belongs to the Special Issue Myotonic Dystrophy: From Molecular Pathogenesis to Therapeutics)
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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MDPI and ACS Style
Tomé, S.; Gourdon, G. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. Int. J. Mol. Sci. 2020, 21, 457. https://doi.org/10.3390/ijms21020457
AMA Style
Tomé S, Gourdon G. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. International Journal of Molecular Sciences. 2020; 21(2):457. https://doi.org/10.3390/ijms21020457
Chicago/Turabian StyleTomé, Stéphanie, and Geneviève Gourdon. 2020. "DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies" International Journal of Molecular Sciences 21, no. 2: 457. https://doi.org/10.3390/ijms21020457
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