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 CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an u...

Ful tanımlama

Detaylı Bibliyografya
Asıl Yazarlar: Finlayson, S, Palace, J, Belaya, K, Walls, T, Norwood, F, Burke, G, Holton, J, Pascual-Pascual, S, Cossins, J, Beeson, D
Materyal Türü: Journal article
Dil:English
Baskı/Yayın Bilgisi: 2013