| http://purl.uniprot.org/citations/9537420 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9537420 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9537420 | http://www.w3.org/2000/01/rdf-schema#comment | "Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q11-21. Here we describe eight patients from two different families with a new form of autosomal dominant LGMD, which we propose to call LGMD1C, associated with a severe deficiency of caveolin-3 in muscle fibres. Caveolin-3 (or M-caveolin) is the muscle-specific form of the caveolin protein family, which also includes caveolin-1 and -2. Caveolins are the principal protein components of caveolae (50-100 nm invaginations found in most cell types) which represent appendages or sub-compartments of plasma membranes. We localized the human caveolin-3 gene (CAV3) to chromosome 3p25 and identified two mutations in the gene: a missense mutation in the membrane-spanning region and a micro-deletion in the scaffolding domain. These mutations may interfere with caveolin-3 oligomerization and disrupt caveolae formation at the muscle cell plasma membrane."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0498-365"xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0498-365"xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Lisanti M.P."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Lisanti M.P."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Bruno C."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Bruno C."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Donati M.A."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Donati M.A."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Zara F."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Zara F."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Minetti C."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Minetti C."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Egeo A."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Egeo A."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Scartezzini P."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Scartezzini P."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Broda P."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Broda P."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Galbiati F."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Galbiati F."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Sotgia F."xsd:string |
| http://purl.uniprot.org/citations/9537420 | http://purl.uniprot.org/core/author | "Sotgia F."xsd:string |