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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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Bibliografische gegevens
Gepubliceerd in:Ann N Y Acad Sci
Hoofdauteurs: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2018
Onderwerpen:
Online toegang: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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