In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease caused by a CTG repeat expansion in the 3′-untranslated region (UTR) of DMPK gene. DM1 alleles containing non-CTG variant repeats (VRs) have been described, with uncertain molecular and clinical consequences. The expanded...

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Detalles Bibliográficos
Autores principales: Visconti, Virginia Veronica, Macrì, Elisa, D’Apice, Maria Rosaria, Centofanti, Federica, Massa, Roberto, Novelli, Giuseppe, Botta, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299395/
https://www.ncbi.nlm.nih.gov/pubmed/37373276
http://dx.doi.org/10.3390/ijms241210129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299395/
https://www.ncbi.nlm.nih.gov/pubmed/37373276
http://dx.doi.org/10.3390/ijms241210129

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