We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
- Authors
Finlayson, Sarah; Palace, Jacqueline; Belaya, Katsiaryna; Walls, Timothy J; Norwood, Fiona; Burke, Georgina; Holton, Janice L; Pascual-Pascual, Samuel I; Cossins, Judith; Beeson, David
- Abstract
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 unexpected cause of isolated neuromuscular involvement.
- Publication
Journal of neurology, neurosurgery, and psychiatry, 2013, Vol 84, Issue 10, p1119
- ISSN
1468-330X
- Publication type
Journal Article
- DOI
10.1136/jnnp-2012-304716