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,...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Ohkawara, Bisei, Cabrera-Serrano, Macarena, Nakata, Tomohiko, Milone, Margherita, Asai, Nobuyuki, Ito, Kenyu, Ito, Mikako, Masuda, Akio, Ito, Yasutomo, Engel, Andrew G., Ohno, Kinji
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2014
Teme:
Articles
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki