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...
| Hauptverfasser: | , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Sprache: | English |
| Veröffentlicht: |
2013
|
Search Result 1
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Veröffentlicht 2013
Journal article