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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2016
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Materias: | |
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 |