Clinical features of the myasthenic syndrome arising from mutations in GMPPB

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

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المؤلفون الرئيسيون:	Rodríguez Cruz, P, Belaya, K, Basiri, K, Sedghi, M, Farrugia, M, Holton, J, Liu, W, Maxwell, S, Petty, R, Walls, T, Kennett, R, Pitt, M, Sarkozy, A, Parton, M, Lochmüller, H, Muntoni, F, Palace, J, Beeson, D
التنسيق:	Journal article
اللغة:	English
منشور في:	BMJ Publishing Group 2016

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

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