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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the und...

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Detalles Bibliográficos
Autores principales:	Cossins, Judith, Belaya, Katsiaryna, Hicks, Debbie, Salih, Mustafa A., Finlayson, Sarah, Carboni, Nicola, Liu, Wei Wei, Maxwell, Susan, Zoltowska, Katarzyna, Farsani, Golara Torabi, Laval, Steven, Seidhamed, Mohammed Zain, Donnelly, Peter, Bentley, David, McGowan, Simon J., Müller, Juliane, Palace, Jacqueline, Lochmüller, Hanns, Beeson, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2013
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580273/ https://www.ncbi.nlm.nih.gov/pubmed/23404334 http://dx.doi.org/10.1093/brain/awt010

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