- 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 ...
Expand abstract - Publisher copy:
- 10.1136/jnnp-2012-304716
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- Journal:
- Journal of Neurology, Neurosurgery and Psychiatry
- Volume:
- 84
- Issue:
- 10
- Pages:
- 1119-1125
- Publication date:
- 2013-10-05
- DOI:
- EISSN:
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1468-330X
- ISSN:
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0022-3050
- URN:
-
uuid:27396840-81a2-4def-be2d-dad7fa4ec90b
- Source identifiers:
-
432315
- Local pid:
- pubs:432315
- Language:
- English
- Copyright date:
- 2013
Journal article
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
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