| http://purl.uniprot.org/citations/18317596 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18317596 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18317596 | http://www.w3.org/2000/01/rdf-schema#comment | "Hyperkalemic periodic paralysis (HyperKPP) produces myotonia and attacks of muscle weakness triggered by rest after exercise or by K+ ingestion. We introduced a missense substitution corresponding to a human familial HyperKPP mutation (Met1592Val) into the mouse gene encoding the skeletal muscle voltage-gated Na+ channel NaV1.4. Mice heterozygous for this mutation exhibited prominent myotonia at rest and muscle fiber-type switching to a more oxidative phenotype compared with controls. Isolated mutant extensor digitorum longus muscles were abnormally sensitive to the Na+/K+ pump inhibitor ouabain and exhibited age-dependent changes, including delayed relaxation and altered generation of tetanic force. Moreover, rapid and sustained weakness of isolated mutant muscles was induced when the extracellular K+ concentration was increased from 4 mM to 10 mM, a level observed in the muscle interstitium of humans during exercise. Mutant muscle recovered from stimulation-induced fatigue more slowly than did control muscle, and the extent of recovery was decreased in the presence of high extracellular K+ levels. These findings demonstrate that expression of the Met1592ValNa+ channel in mouse muscle is sufficient to produce important features of HyperKPP, including myotonia, K+-sensitive paralysis, and susceptibility to delayed weakness during recovery from fatigue."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci32638"xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci32638"xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Kim J.S."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Kim J.S."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Kim J.W."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Kim J.W."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Zhou H."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Zhou H."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Brown R.H. Jr."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Brown R.H. Jr."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Hoffman E.P."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Hoffman E.P."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Lee M.Y."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Lee M.Y."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Matsuda C."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Matsuda C."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Misra K."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Misra K."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Cannon S.C."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Cannon S.C."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Cros D."xsd:string |
| http://purl.uniprot.org/citations/18317596 | http://purl.uniprot.org/core/author | "Cros D."xsd:string |