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Clinical features of the myasthenic syndrome arising from mutations in GMPPB

BACKGROUND: Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. METHODS: Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neu...

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Dettagli Bibliografici
Pubblicato in:J Neurol Neurosurg Psychiatry
Autori principali: Rodríguez Cruz, Pedro M, Belaya, Katsiaryna, Basiri, Keivan, Sedghi, Maryam, Farrugia, Maria Elena, Holton, Janice L, Liu, Wei Wei, Maxwell, Susan, Petty, Richard, Walls, Timothy J, Kennett, Robin, Pitt, Matthew, Sarkozy, Anna, Parton, Matt, Lochmüller, Hanns, Muntoni, Francesco, Palace, Jacqueline, Beeson, David
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6047737/
https://ncbi.nlm.nih.gov/pubmed/27147698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2016-313163
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