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Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission

Congenital myasthenic syndromes are inherited disorders characterized by fatiguable muscle weakness resulting from impaired signal transmission at the neuromuscular junction. Causative mutations have been identified in genes that can affect the synaptic function or structure. We identified a homozyg...

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Detalles Bibliográficos
Autores principales:	Cossins, Judith, Webster, Richard, Maxwell, Susan, Rodríguez Cruz, Pedro M, Knight, Ravi, Llewelyn, John Gareth, Shin, Ji-Yeon, Palace, Jacqueline, Beeson, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7660151/ https://www.ncbi.nlm.nih.gov/pubmed/33215087 http://dx.doi.org/10.1093/braincomms/fcaa174

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