Abstract:Resumen
Objetivos
La distrofia miotónica tipo 1, conocida también como enfermedad de Steinert, es un desorden multisistémico crónico, degenerativo e incapacitante de expresividad clínica muy variable provocado por una expansión heredada de manera autosómica dominante de la repetición del triplete citosina-timina-guanina, localizada en la región 3′ no codificante del gen DMPK (19q13.3).
Caso clínico
… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.