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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CN...

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Detalles Bibliográficos
Autores principales: Chesshyre, Mary, Ridout, Deborah, Hashimoto, Yasumasa, Ookubo, Yoko, Torelli, Silvia, Maresh, Kate, Ricotti, Valeria, Abbott, Lianne, Gupta, Vandana Ayyar, Main, Marion, Ferrari, Giulia, Kowala, Anna, Lin, Yung‐Yao, Tedesco, Francesco Saverio, Scoto, Mariacristina, Baranello, Giovanni, Manzur, Adnan, Aoki, Yoshitsugu, Muntoni, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8977977/
https://www.ncbi.nlm.nih.gov/pubmed/35083887
http://dx.doi.org/10.1002/jcsm.12914