LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Using Sanger and exome sequencing in a CMS patient, we identified two heteroallelic mutations, p.Glu1233Lys and p.Arg1277His,...

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Autori principali: Ohkawara, Bisei, Cabrera-Serrano, Macarena, Nakata, Tomohiko, Milone, Margherita, Asai, Nobuyuki, Ito, Kenyu, Ito, Mikako, Masuda, Akio, Ito, Yasutomo, Engel, Andrew G., Ohno, Kinji
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943522/
https://ncbi.nlm.nih.gov/pubmed/24234652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt578
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