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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2008-3-4
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pubmed:abstractText |
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 unknown. An atypical phenotype with cold-induced hypokalemic paralysis and myotonia at warm temperatures was reported to segregate with the P1158S mutation.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
4
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pubmed:volume |
70
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
755-61
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:17898326-Action Potentials,
pubmed-meshheading:17898326-Body Temperature,
pubmed-meshheading:17898326-Cell Line,
pubmed-meshheading:17898326-Channelopathies,
pubmed-meshheading:17898326-Cold Temperature,
pubmed-meshheading:17898326-Humans,
pubmed-meshheading:17898326-Ion Channel Gating,
pubmed-meshheading:17898326-Muscle, Skeletal,
pubmed-meshheading:17898326-Muscle Contraction,
pubmed-meshheading:17898326-Muscle Proteins,
pubmed-meshheading:17898326-Myotonic Disorders,
pubmed-meshheading:17898326-Paralysis, Hyperkalemic Periodic,
pubmed-meshheading:17898326-Patch-Clamp Techniques,
pubmed-meshheading:17898326-Phenotype,
pubmed-meshheading:17898326-Reaction Time,
pubmed-meshheading:17898326-Sarcolemma,
pubmed-meshheading:17898326-Sodium Channels,
pubmed-meshheading:17898326-Time Factors
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pubmed:year |
2008
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pubmed:articleTitle |
Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
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pubmed:affiliation |
Department of Neurology, UT Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8813, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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