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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

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 linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome. Through...

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Publisher copy:
10.1093/brain/awt010

Authors


Cossins, J More by this author
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Journal:
Brain
Volume:
136
Issue:
3
Pages:
944-956
Publication date:
2013-03-01
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:073af3d4-9ea3-4f0d-8849-f8ca20c728d9
Source identifiers:
394099
Local pid:
pubs:394099

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