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MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion
Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterized by compromised function of the neuromuscular junction, manifesting with fatigable muscle weakness. Mutations in MYO9A were previously identified as causative for CMS but the precise pathomechanism remained t...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991207/ https://www.ncbi.nlm.nih.gov/pubmed/29462312 http://dx.doi.org/10.1093/hmg/ddy054 |