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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Neurol Clin Pract
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2019
Teme:
Review
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814415/
https://ncbi.nlm.nih.gov/pubmed/31750030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/CPJ.0000000000000646
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