A case report of congenital myasthenic syndrome caused by a mutation in theCHRNE genein the Iranian population

Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmissionat the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This...

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Detalles Bibliográficos
Autores principales: FARJAMI, Zahra, KHODAENIA, Negar, EBRAHIMI, Neshat, ZAMANI, Gholamreza, ASHNAEI, Amir Hosein, GALEHDARI, Mohammad, MORADYAR, Mehdi, HOUSHMAND, Massoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7660024/
https://www.ncbi.nlm.nih.gov/pubmed/33193787

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