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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
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 |