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

doi:10.3390/ijms21020457

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Article

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

International journal of molecular sciences - 10 Jan 2020

Tomé Stéphanie, Gourdon Geneviève

Abstract excerpt

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...

Topics

Animals
Biological Variation, Population
Cardiotocography
Humans
Myotonic Dystrophy
Myotonin-Protein Kinase
Phenotype
Trinucleotide Repeats

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Identifiers

PMID: 31936870
DOI: 10.3390/ijms21020457
PMCID: PMC7014087

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