High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder caused by the expansion of a CTG repeat in the 3′-UTR of DMPK, which is transcribed to a toxic gain-of-function RNA that affects splicing of a range of genes. The expanded repeat is unstable in both germline and somatic cells....

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Detalles Bibliográficos
Autores principales: Rasmussen, Astrid, Hildonen, Mathis, Vissing, John, Duno, Morten, Tümer, Zeynep, Birkedal, Ulf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222588/
https://www.ncbi.nlm.nih.gov/pubmed/35741732
http://dx.doi.org/10.3390/genes13060970

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222588/
https://www.ncbi.nlm.nih.gov/pubmed/35741732
http://dx.doi.org/10.3390/genes13060970

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