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 Scijournal_title
International journal of molecular sciencesauthors
Tomé S,Gourdon Gdoi
10.3390/ijms21020457subject
Has Abstractpub_date
2020-01-10 00:00:00issue
2issn
1422-0067pii
ijms21020457journal_volume
21pub_type
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