High Resolution Analysis of <i>DMPK</i> Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

High Resolution Analysis of <i>DMPK</i> 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 <i>DMPK</i>, 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...

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Bibliographic Details
Main Authors: Astrid Rasmussen, Mathis Hildonen, John Vissing, Morten Duno, Zeynep Tümer, Ulf Birkedal
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
Subjects:
Oxford nanopore
long-read sequencing
DM1
epigenetics
methylation
diagnostics
Online Access:https://www.mdpi.com/2073-4425/13/6/970

Internet

https://www.mdpi.com/2073-4425/13/6/970

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