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Congenital myasthenic syndrome in China: genetic and myopathological characterization

OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. METHODS: The clinical spectrum, mutational frequency of genes, and pathological diagnostic clues of various...

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Detalles Bibliográficos
Autores principales: Zhao, Yawen, Li, Ying, Bian, Yang, Yao, Sheng, Liu, Penju, Yu, Meng, Zhang, Wei, Wang, Zhaoxia, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045908/
https://www.ncbi.nlm.nih.gov/pubmed/33756069
http://dx.doi.org/10.1002/acn3.51346

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