Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Background A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMSassociated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an une...

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Bibliografski detalji
Glavni autori: Finlayson, S, Palace, J, Belaya, K, Walls, T, Norwood, F, Burke, G, Holton, J, Pascual-Pascual, S, Cossins, J, Beeson, D
Format: Journal article
Jezik:English
Izdano: 2013