Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

OBJECTIVE: To identify the molecular basis of a fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia. METHODS: We performed clinical and in vitro microelectrode studies of neuromuscular transmission, examined neuromuscular junctions cytochemically and by electron microscopy (EM...

Descripción completa

Detalles Bibliográficos
Autores principales: Engel, Andrew G., Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C. Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017540/
https://www.ncbi.nlm.nih.gov/pubmed/27648472
http://dx.doi.org/10.1212/NXG.0000000000000105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017540/
https://www.ncbi.nlm.nih.gov/pubmed/27648472
http://dx.doi.org/10.1212/NXG.0000000000000105

Ejemplares similares