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Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Abstract:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogenous group of disorders with 15 different genes implicated in the development of the disease. Using whole-exome sequencing we identified DPAGT1 as a new gene associated with CMS. DPAGT1 catalyses the first step of N-linked protein glycosylation. DPAGT1 patients are characterize...

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Publication status:
Published

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Authors


Finlayson, S More by this author
Cossins, J More by this author
Maxwell, S More by this author
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Journal:
Annals of the New York Academy of Sciences
Volume:
1275
Issue:
1
Pages:
29-35
Publication date:
2012-12-05
DOI:
EISSN:
1749-6632
ISSN:
0077-8923
URN:
uuid:187fb64a-a5d6-4abe-bbd0-1539ec6a0fba
Source identifiers:
369930
Local pid:
pubs:369930

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