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Cold-Induced Defects of Sodium Channel Gating in Atypical Periodic Paralysis Plus Myotonia

BACKGROUND: Missense mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. The mechanistic basis for the phenotypic variability of these allelic disorders of muscle excitability remains...

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Hlavní autoři: Webb, Jadon, Cannon, Stephen C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4094148/
https://ncbi.nlm.nih.gov/pubmed/17898326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000265397.70057.d8
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