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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| 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 |