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Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models

Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging into synaptic vesicles, or its subsequent release...

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Detalles Bibliográficos
Autores principales:	Pugliese, Alessia, Holland, Stephen H., Rodolico, Carmelo, Lochmüller, Hanns, Spendiff, Sally
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578258/ https://www.ncbi.nlm.nih.gov/pubmed/37212067 http://dx.doi.org/10.3233/JND-221646

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