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Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1

PURPOSE OF REVIEW: Myotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) or in the pediatric age range (childhood-onset my...

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Detalles Bibliográficos
Autores principales: Johnson, Nicholas E., Aldana, Eugenio Zapata, Angeard, Nathalie, Ashizawa, Tetsuo, Berggren, Kiera N., Marini-Bettolo, Chiara, Duong, Tina, Ekström, Anne-Berit, Sansone, Valeria, Tian, Cuixia, Hellerstein, Leah, Campbell, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814415/
https://www.ncbi.nlm.nih.gov/pubmed/31750030
http://dx.doi.org/10.1212/CPJ.0000000000000646