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Mice with an Na(V)1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis

Over 60 mutations of SCN4A encoding the Na(V)1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy. Most mutations are missense with gain-of-function defects that cause susceptibility to myotonia or periodic paral...

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Bibliografske podrobnosti
izdano v:Brain
Main Authors: Wu, Fenfen, Mi, Wentao, Fu, Yu, Struyk, Arie, Cannon, Stephen C.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4892753/
https://ncbi.nlm.nih.gov/pubmed/27048647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww070
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