- Review
An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I
- Andrea López-Martínez,
- Patricia Soblechero-Martín,
- Laura de-la-Puente-Ovejero,
- Gisela Nogales-Gadea and
- Virginia Arechavala-Gomeza
Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy, caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′UTR) of the myotonic dystrophy protein kinase (DMPK) gene. The pathological...

