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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report

RATIONALE: Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular diagnos...

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Detalles Bibliográficos
Autores principales:	Yang, Kunfang, Cheng, Hongyi, Yuan, Fang, Meng, Linyi, Yin, Rongrong, Zhang, Yuanfeng, Wang, Simei, Wang, Chunmei, Lu, Yanfen, Xi, Jiaming, Lu, Qin, Chen, Yucai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944527/ https://www.ncbi.nlm.nih.gov/pubmed/29702980 http://dx.doi.org/10.1097/MD.0000000000010347

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