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Mechanisms of a Human Skeletal Myotonia Produced by Mutation in the C-Terminus of Na(V)1.4: Is Ca(2+) Regulation Defective?
Mutations in the cytoplasmic tail (CT) of voltage gated sodium channels cause a spectrum of inherited diseases of cellular excitability, yet to date only one mutation in the CT of the human skeletal muscle voltage gated sodium channel (hNa(V)1.4(F1705I)) has been linked to cold aggravated myotonia....
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3855693/ https://ncbi.nlm.nih.gov/pubmed/24324661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0081063 |
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