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Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine (ACh) have recently been described. SLC18A3 encodes the vesicular ACh transporter (VAChT), modulating the active transport of ACh at the...

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Detalles Bibliográficos
Autores principales:	Della Marina, Adela, Arlt, Annabelle, Schara-Schmidt, Ulrike, Depienne, Christel, Gangfuß, Andrea, Kölbel, Heike, Sickmann, Albert, Freier, Erik, Kohlschmidt, Nicolai, Hentschel, Andreas, Weis, Joachim, Czech, Artur, Grüneboom, Anika, Roos, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700530/ https://www.ncbi.nlm.nih.gov/pubmed/34943989 http://dx.doi.org/10.3390/cells10123481

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