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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Publicat a:Brain
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4240299/
https://ncbi.nlm.nih.gov/pubmed/25348630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu292
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