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,...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2014
Matèries:
Articles
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars