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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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Dettagli Bibliografici
Pubblicato in:Lancet Neurol
Autori principali: Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
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Accesso online: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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