Laddar...
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...
Sparad:
| I publikationen: | Neurol Genet |
|---|---|
| Huvudupphovsmän: | , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Wolters Kluwer
2020
|
| Ämnen: | |
| Länkar: | 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 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|