Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect

OBJECTIVE: To report two cases of congenital myasthenic syndromes (CMS) in a Chinese family with mutations in the COLQ gene and to prove the consequence defect of the ColQ protein. METHOD: Clinical characteristics of the two children from the same family were described. Next-generation sequencing (N...

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Detalles Bibliográficos
Autores principales: Zhang, Qiting, Sha, Qianqian, Qiao, Kai, Liu, Xiaoli, Gong, Xiaohui, Du, Ailian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925971/
https://www.ncbi.nlm.nih.gov/pubmed/36798769
http://dx.doi.org/10.1016/j.heliyon.2023.e13272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925971/
https://www.ncbi.nlm.nih.gov/pubmed/36798769
http://dx.doi.org/10.1016/j.heliyon.2023.e13272

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