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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1997-12-8
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pubmed:abstractText |
The skeletal muscle sodium channel mutant I1160V cosegregates with a disease phenotype producing myotonic discharges (observed as muscle stiffness) that are worsened by elevated K+ levels but unaffected by cooling. The I1160V alpha-subunit was co-expressed with the beta1-subunit in Xenopus oocytes. An electrophysiological characterization was undertaken to examine the underlying biophysical characteristics imposed by this mutation. Two abnormalities were found. 1) The voltage dependence of steady-state fast inactivation was reduced in I1160V, which resulted in faster rates of closed-state fast inactivation onset and recovery in I1160V compared with wild-type channels. 2) The rates of deactivation were slower in I1160V than in wild-type channels. Using a computer-simulated model, the combination of both defects elicited myotonic runs under conditions of elevated K+, consistent with the observed phenotype of the mutant.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-1332060,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-1375395,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-2434628,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7473241,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7533571,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7676326,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7744852,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7778872,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7809121,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7965854,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-7991630,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8058156,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8110459,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8242056,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8308722,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8396455,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8619545,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8740371,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8787138,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8804606,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8833340,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8854339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-8968581,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9336185-9130156
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0006-3495
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1896-903
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9336185-Animals,
pubmed-meshheading:9336185-Base Sequence,
pubmed-meshheading:9336185-Biophysical Phenomena,
pubmed-meshheading:9336185-Biophysics,
pubmed-meshheading:9336185-Computer Simulation,
pubmed-meshheading:9336185-DNA Primers,
pubmed-meshheading:9336185-Electrophysiology,
pubmed-meshheading:9336185-Female,
pubmed-meshheading:9336185-Kinetics,
pubmed-meshheading:9336185-Membrane Potentials,
pubmed-meshheading:9336185-Models, Biological,
pubmed-meshheading:9336185-Mutagenesis, Site-Directed,
pubmed-meshheading:9336185-Myotonia,
pubmed-meshheading:9336185-Oocytes,
pubmed-meshheading:9336185-Point Mutation,
pubmed-meshheading:9336185-Rats,
pubmed-meshheading:9336185-Sodium Channel Blockers,
pubmed-meshheading:9336185-Sodium Channels,
pubmed-meshheading:9336185-Xenopus laevis
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pubmed:year |
1997
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pubmed:articleTitle |
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
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pubmed:affiliation |
Department of Biology, University of Utah, Salt Lake City 84112, USA.
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pubmed:publicationType |
Journal Article,
In Vitro,
Research Support, U.S. Gov't, P.H.S.
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