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