Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

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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Bibliographic Details
Main Authors: Mariana I. Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-López, Aurelio Hernández-Laín, Miguel A. Martín, Cristina Domínguez-González
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Journal of Clinical Medicine
Subjects:
congenital myasthenic syndromes
mitochondrial myopathies
genetics
neuromuscular disorders
Online Access:https://www.mdpi.com/2077-0383/12/9/3308

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https://www.mdpi.com/2077-0383/12/9/3308

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