Next Article in Journal
Molecular Psychiatry: Trends and Study Examples
Previous Article in Journal
Regulation of CFTR Biogenesis by the Proteostatic Network and Pharmacological Modulators
Previous Article in Special Issue
Correction of RNA-Binding Protein CUGBP1 and GSK3β Signaling as Therapeutic Approach for Congenital and Adult Myotonic Dystrophy Type 1
Open AccessReview

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
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(2), 457; https://doi.org/10.3390/ijms21020457
Received: 24 September 2019 / Revised: 2 January 2020 / Accepted: 8 January 2020 / 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. View Full-Text
Keywords: myotonic dystrophy; clinic variability; CTG repeat instability myotonic dystrophy; clinic variability; CTG repeat instability
Show Figures

Figure 1

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.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Search more from Scilit
 
Search
Back to TopTop