Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is a multisystemic and heterogeneous disorder caused by the expansion of CTG repeats in the 3’ UTR of the myotonic dystrophy protein kinase (DMPK) gene. There is a congenital form (CDM1) of the disease characterized by severe hypotonia, respiratory insufficiency as we...
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| Główni autorzy: | , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Elsevier
2021-12-01
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| Seria: | Neurobiology of Disease |
| Hasła przedmiotowe: | |
| Dostęp online: | http://www.sciencedirect.com/science/article/pii/S0969996121002813 |
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