Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

OBJECTIVE: We tested the hypothesis that variant repeat interruptions (RIs) within the DMPK CTG repeat tract lead to milder symptoms compared with pure repeats (PRs) in myotonic dystrophy type 1 (DM1). METHODS: We evaluated motor, neurocognitive, and behavioral outcomes in a group of 6 participants...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7428360/
https://ncbi.nlm.nih.gov/pubmed/32851192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000504
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados