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Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PRE...

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Publicat a:Lancet Neurol
Autors principals: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M.
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520251/
https://ncbi.nlm.nih.gov/pubmed/25792100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(14)70201-7
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