Journal article
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
- Abstract:
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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 ...
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- Publisher copy:
- 10.1136/jnnp-2012-304716
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Bibliographic Details
- Journal:
- Journal of Neurology, Neurosurgery and Psychiatry
- Volume:
- 84
- Issue:
- 10
- Pages:
- 1119-1125
- Publication date:
- 2013-10-01
- DOI:
- EISSN:
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1468-330X
- ISSN:
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0022-3050
- Source identifiers:
-
432315
Item Description
- 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
- Copyright date:
- 2013
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