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Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations

BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS. However, data on pharmacological treatments a...

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Detalles Bibliográficos
Autores principales: Shao, Shuai, Shi, Guanzhong, Bi, Fang-Fang, Huang, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472815/
https://www.ncbi.nlm.nih.gov/pubmed/36703579
http://dx.doi.org/10.2174/1570159X21666230126145652