| Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | |
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MedLine Citation:
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PMID: 10746614 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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I Carbone; C Bruno; F Sotgia; M Bado; P Broda; E Masetti; A Panella; F Zara; F D Bricarelli; G Cordone; M P Lisanti; C Minetti |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Neurology Volume: 54 ISSN: 0028-3878 ISO Abbreviation: Neurology Publication Date: 2000 Mar |
Date Detail:
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Created Date: 2000-08-18 Completed Date: 2000-08-18 Revised Date: 2012-02-22 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1373-6 Citation Subset: AIM; IM |
Affiliation:
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Servizio Malattie Neuro-Muscolari, Università di Genova, Istituto G. Gaslini, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Caveolin 3 Caveolins* Child, Preschool Creatine Kinase / blood* Glycoproteins / deficiency*, genetics* Humans Immunohistochemistry Male Membrane Proteins / deficiency*, genetics* Molecular Sequence Data Muscular Dystrophies / genetics*, pathology Mutation / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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1111//Telethon; R01-CA-80250/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Caveolin 3; 0/Caveolins; 0/Glycoproteins; 0/Membrane Proteins; EC 2.7.3.2/Creatine Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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