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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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Bibliographic Details
Published in:Ann N Y Acad Sci
Main Authors: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu
Format: Artigo
Language:Inglês
Published: 2018
Subjects:
Online Access: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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