Journal article icon

Journal article

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Abstract:

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 unexpected cause of isolated neuromuscular involvement. Methods We present detailed clinical characteristics of five patients with CMS caused by DPAGT1 mutations. Results Patients have prominent limb ...

Expand abstract

Actions


Access Document


Publisher copy:
10.1136/jnnp-2012-304716

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Journal:
Journal of Neurology, Neurosurgery and Psychiatry
Volume:
84
Issue:
10
Pages:
1119-1125
Publication date:
2013-10-01
DOI:
EISSN:
1468-330X
ISSN:
0022-3050
Source identifiers:
432315
Language:
English
Pubs id:
pubs:432315
UUID:
uuid:27396840-81a2-4def-be2d-dad7fa4ec90b
Local pid:
pubs:432315
Deposit date:
2013-11-16

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP