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Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

Background: Congenital myasthenic syndromes (CMSs) and primary mitochondrial myopathies (PMMs) can present with ptosis, external ophthalmoplegia, and limb weakness. Methods: Our method involved the description of three cases of CMS that were initially characterized as probable PMM. Results: All pati...

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Detalles Bibliográficos
Autores principales: Muñoz-García, Mariana I., Guerrero-Molina, María Paz, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Bermejo-Guerrero, Laura, Arteche-López, Ana, Hernández-Laín, Aurelio, Martín, Miguel A., Domínguez-González, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179722/
https://www.ncbi.nlm.nih.gov/pubmed/37176748
http://dx.doi.org/10.3390/jcm12093308

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