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The unfolding landscape of the congenital myasthenic syndromes

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is impaired by one or more specific mechanisms. Since the advent of next-generation sequencing methods, the discovery of novel CMS targets and phenotypes has proceeded at an acc...

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Detalhes bibliográficos
Publicado no:Ann N Y Acad Sci
Main Authors: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5800977/
https://ncbi.nlm.nih.gov/pubmed/29355968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.13539
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