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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Veröffentlicht in:Hum Genet
Hauptverfasser: Maselli, Ricardo A., Fernandez, Jose M., Arredondo, Juan, Navarro, Carmen, Ngo, Maian, Beeson, David, Cagney, Órla, Williams, D. Colette, Wollmann, Robert L., Yarov-Yarovoy, Vladimir, Ferns, Michael J
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang: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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