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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| Auteurs principaux: | , , , |
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| Format: | article |
| Langue: | EN |
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Elsevier
2021
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| Accès en ligne: | https://doaj.org/article/8759f92d2eac44d2beeb669ed7d4ec37 |
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