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...

Descripción completa

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

Internet

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

Ejemplares similares