Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Mutations in the skeletal muscle channel (SCN4A), encoding the Na(v)1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized bo...

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Detalles Bibliográficos
Autores principales: Corrochano, Silvia, Männikkö, Roope, Joyce, Peter I., McGoldrick, Philip, Wettstein, Jessica, Lassi, Glenda, Raja Rayan, Dipa L., Blanco, Gonzalo, Quinn, Colin, Liavas, Andrianos, Lionikas, Arimantas, Amior, Neta, Dick, James, Healy, Estelle G., Stewart, Michelle, Carter, Sarah, Hutchinson, Marie, Bentley, Liz, Fratta, Pietro, Cortese, Andrea, Cox, Roger, Brown, Steve D. M., Tucci, Valter, Wackerhage, Henning, Amato, Anthony A., Greensmith, Linda, Koltzenburg, Martin, Hanna, Michael G., Acevedo-Arozena, Abraham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240299/
https://www.ncbi.nlm.nih.gov/pubmed/25348630
http://dx.doi.org/10.1093/brain/awu292

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