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Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease

Congenital myasthenic syndromes (CMS) are a group of rare, neuromuscular disorders that usually present in childhood or infancy. While the phenotypic presentation of these disorders is diverse, the unifying feature is a pathomechanism that disrupts neuromuscular transmission. Recently, two mitochond...

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Detalles Bibliográficos
Autores principales:	O’Connor, Kaela, Spendiff, Sally, Lochmüller, Hanns, Horvath, Rita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218558/ https://www.ncbi.nlm.nih.gov/pubmed/37239850 http://dx.doi.org/10.3390/ijms24108505

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