Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy

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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Bibliographic Details
Main Authors: Thiéry De Serres-Bérard, Marion Pierre, Mohamed Chahine, Jack Puymirat
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Neurobiology of Disease
Subjects:
Congenital myotonic dystrophy
Myotonic dystrophy type 1
Brain development
Alternative splicing
DMPK
MBNL
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996121002813

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