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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 ...

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Publisher copy:
10.1136/jnnp-2012-304716

Authors


Finlayson, S More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Norwood, F More by this author
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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:
1468-330X
ISSN:
0022-3050
URN:
uuid:27396840-81a2-4def-be2d-dad7fa4ec90b
Source identifiers:
432315
Local pid:
pubs:432315
Language:
English

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