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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old...

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Detalles Bibliográficos
Autores principales:	Maselli, Ricardo A., Vázquez, Jessica, Schrumpf, Leah, Arredondo, Juan, Lara, Marian, Strober, Jonathan B., Pytel, Peter, Wollmann, Robert L., Ferns, Michael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014458/ https://www.ncbi.nlm.nih.gov/pubmed/29441694 http://dx.doi.org/10.1002/mgg3.370

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