DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.

Abstract:

:Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cardiotocography (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.

journal_name

Int J Mol Sci

authors

Tomé S,Gourdon G

doi

10.3390/ijms21020457

subject

Has Abstract

pub_date

2020-01-10 00:00:00

issue

2

issn

1422-0067

pii

ijms21020457

journal_volume

21

pub_type

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