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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Publicado no:Brain
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Original Articles
Acesso em linha: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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