A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue

Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous inherited disorder that is treatable. Although the disease usually develops at birth or during infancy, some patients develop the disease in the second to third decades of life. Collagen-like tail subunit of asymmetri...

Descripción completa

Detalles Bibliográficos
Autores principales: Horibe, Takuya, Shimomura, Hideki, Tokunaga, Sachi, Taniguchi, Naoko, Lee, Tomoko, Kimura, Shigemi, Takeshima, Yasuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217334/
https://www.ncbi.nlm.nih.gov/pubmed/37238317
http://dx.doi.org/10.3390/children10050769

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217334/
https://www.ncbi.nlm.nih.gov/pubmed/37238317
http://dx.doi.org/10.3390/children10050769

Ejemplares similares