Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK). The identified MUSK mutations M605I and A727V are both located in the kinase domain of MuSK. Intracellular microelectrode recordings an...

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Detalles Bibliográficos
Autores principales: Maselli, Ricardo A., Arredondo, Juan, Cagney, Órla, Ng, Jarae J., Anderson, Jennifer A., Williams, Colette, Gerke, Bae J., Soliven, Betty, Wollmann, Robert L.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2876883/
https://www.ncbi.nlm.nih.gov/pubmed/20371544
http://dx.doi.org/10.1093/hmg/ddq110

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