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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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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:
2012-07-13
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:f08aacc1-dd05-48f1-aaa1-e44578587cae
Source identifiers:
344789
Local pid:
pubs:344789
Language:
English

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