Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Mariana I Muñoz-GarcíaMaría Paz Guerrero-MolinaCarlos Pablo de Fuenmayor-Fernández de la HozLaura Bermejo-GuerreroAna Arteche-LópezAurelio Hernández-LaínMiguel Angel MartinCristina Domínguez-GonzálezPublished in: Journal of clinical medicine (2023)
Early identification of CMS is essential as medical treatment can provide clear benefits. Its diagnosis can be challenging due to phenotypic overlap with other debilitating disorders. Thus, a high index of suspicion is necessary to guide the diagnostic strategy.