COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature()

Congenital myasthenia syndromes (CMS) are a heterogeneous group of hereditary disorders of the neuromuscular junction. The symptoms include fatigue, muscle weakness, ptosis, mastication or swallowing problem, respiratory distress. We present a 42-year-old male patient who was admitted with complaint...

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Detalles Bibliográficos
Autores principales: Yin, Yatao, Cao, Jing, Fan, Yuanteng, Xu, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10559664/
https://www.ncbi.nlm.nih.gov/pubmed/37809778
http://dx.doi.org/10.1016/j.heliyon.2023.e19980

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10559664/
https://www.ncbi.nlm.nih.gov/pubmed/37809778
http://dx.doi.org/10.1016/j.heliyon.2023.e19980

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