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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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5944527/
https://ncbi.nlm.nih.gov/pubmed/29702980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000010347
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