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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Abstract:

We describe a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutations: a nonsense and a missense mutation in the gene encoding agrin (AGRN). The identified mutations, Q353X and V1727F, are located at the N-terminal and at the second laminin G-like (LG2) domain of agrin, respectively. A motor-point muscle biopsy demonstrated severe disruption of the architecture of the neuromuscular junction (NMJ), including: dispersion and fragmentation of endplate areas with...

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Publication status:
Published

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Publisher copy:
10.1007/s00439-011-1132-4

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Journal:
Human genetics More from this journal
Volume:
131
Issue:
7
Pages:
1123-1135
Publication date:
2012-07-01
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
Language:
English
Keywords:
Pubs id:
pubs:341649
UUID:
uuid:91caa882-4431-49bf-9080-ac7b8e54d16a
Local pid:
pubs:341649
Source identifiers:
341649
Deposit date:
2012-12-19

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