Autor: Palma-Jimenez, M., Ramirez-Carvajal, L., Corrales, E., Olafson, H., Wang, E. T., Morales, F.
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Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
BackgroundMyotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in DM1 is crucial for monitoring disease progression.Meth…