| pubmed-article:10746614 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C0386312 | lld:lifeskim |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C1413146 | lld:lifeskim |
| pubmed-article:10746614 | lifeskim:mentions | umls-concept:C0728938 | lld:lifeskim |
| pubmed-article:10746614 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:10746614 | pubmed:dateCreated | 2000-8-18 | lld:pubmed |
| pubmed-article:10746614 | pubmed:abstractText | Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia. | lld:pubmed |
| pubmed-article:10746614 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10746614 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10746614 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10746614 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:10746614 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10746614 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:10746614 | pubmed:issn | 0028-3878 | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:BrunoCC | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:CordoneGG | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:MinettiCC | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:BrochHH | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:CarboniMM | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:BricarelliF... | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:BadeGG | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:LisantiM PMP | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:ZarbGG | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:MasettiEE | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:PanellaAA | lld:pubmed |
| pubmed-article:10746614 | pubmed:author | pubmed-author:SotgiaFF | lld:pubmed |
| pubmed-article:10746614 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10746614 | pubmed:day | 28 | lld:pubmed |
| pubmed-article:10746614 | pubmed:volume | 54 | lld:pubmed |
| pubmed-article:10746614 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10746614 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10746614 | pubmed:pagination | 1373-6 | lld:pubmed |
| pubmed-article:10746614 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:10746614 | pubmed:meshHeading | pubmed-meshheading:10746614... | lld:pubmed |
| pubmed-article:10746614 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10746614 | pubmed:articleTitle | Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | lld:pubmed |
| pubmed-article:10746614 | pubmed:affiliation | Servizio Malattie Neuro-Muscolari, Università di Genova, Istituto G. Gaslini, Italy. | lld:pubmed |
| pubmed-article:10746614 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10746614 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:10746614 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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