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...

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Pubblicato in:Neurol Genet
Autori principali: Miller, Jacob N., van der Plas, Ellen, Hamilton, Mark, Koscik, Timothy R., Gutmann, Laurie, Cumming, Sarah A., Monckton, Darren G., Nopoulos, Peggy C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2020
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Article
Accesso online: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
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