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LG2 Agrin Mutation Causing Severe Congenital Myasthenic Syndrome Mimics Functional Characteristics of Non-neural (z−) Agrin
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 ag...
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| Publicado no: | Hum Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4795461/ https://ncbi.nlm.nih.gov/pubmed/22205389 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-1132-4 |
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