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Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome

Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogenous group of disorders with 15 different genes implicated in the development of...

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Detalles Bibliográficos
Publicado en:Ann N Y Acad Sci
Autores principales: Belaya, Katsiaryna, Finlayson, Sarah, Cossins, Judith, Liu, Wei Wei, Maxwell, Susan, Palace, Jacqueline, Beeson, David
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6044425/
https://ncbi.nlm.nih.gov/pubmed/23278575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1749-6632.2012.06790.x
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