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MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion

Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterized by compromised function of the neuromuscular junction, manifesting with fatigable muscle weakness. Mutations in MYO9A were previously identified as causative for CMS but the precise pathomechanism remained t...

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Detalles Bibliográficos
Autores principales:	O’Connor, Emily, Phan, Vietxuan, Cordts, Isabell, Cairns, George, Hettwer, Stefan, Cox, Daniel, Lochmüller, Hanns, Roos, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991207/ https://www.ncbi.nlm.nih.gov/pubmed/29462312 http://dx.doi.org/10.1093/hmg/ddy054

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