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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Detalhes bibliográficos
Publicado no:J Neurol Neurosurg Psychiatry
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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