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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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Dettagli Bibliografici
Pubblicato in:Ann N Y Acad Sci
Autori principali: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Accesso online: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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