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Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome

OBJECTIVE: To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. METHODS: We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences of the identified mutation. RESULTS: Clinical electrophysio...

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Detalles Bibliográficos
Autores principales:	Shen, Xin‐Ming, Scola, Rosana H., Lorenzoni, Paulo J., Kay, Cláudia S. K., Werneck, Lineu C., Brengman, Joan, Selcen, Duygu, Engel, Andrew G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288468/ https://www.ncbi.nlm.nih.gov/pubmed/28168212 http://dx.doi.org/10.1002/acn3.387

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