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Journal article

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Abstract:

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed whole-exome sequencing to determine the underlying defect in a group of individuals with an inherited limb-girdle pattern of myasthenic weakness. We identify DPAGT1 as a gene in which mutations cause a congenital myasthenic syndrome. We describe seven different mutations fou...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2012.05.022

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Journal:
American journal of human genetics
Volume:
91
Issue:
1
Pages:
193-201
Publication date:
2012-07-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:cb1382b8-af2d-4030-8efe-223c662002aa
Source identifiers:
341219
Local pid:
pubs:341219

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