Cold-induced disruption of Na(+) channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

The Q270K mutation of the skeletal muscle Na(+) channel α subunit (Nav1.4) causes atypical paramyotonia with a striking sensitivity to cold. Attacks of paralysis and a drop in the compound muscle action potential (CMAP) are exclusively observed at cold. To understand the pathogenic process, we studi...

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Bibliografiska uppgifter
Huvudupphovsmän: Carle, Thomas, Fournier, Emmanuel, Sternberg, Damien, Fontaine, Bertrand, Tabti, Nacira
Materialtyp: Artigo
Språk:Inglês
Publicerad: Blackwell Science Inc 2009
Ämnen:
Neuroscience
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2683958/
https://ncbi.nlm.nih.gov/pubmed/19221125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2008.165787
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