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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...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5017540/ https://ncbi.nlm.nih.gov/pubmed/27648472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000105 |
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