| http://purl.uniprot.org/citations/15564037 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15564037 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15564037 | http://www.w3.org/2000/01/rdf-schema#comment | "Caveolin-3 deficiency is a rare, autosomal dominant, muscle disorder caused by caveolin-3 gene (CAV3) mutations and consists of four clinical phenotypes: limb-girdle muscular dystrophy type 1C (LGMD-1C), rippling muscle disease, distal myopathy, and familial hyperCKemia. So far, only 13 mutations have been reported. We here report two novel heterozygous mutations, 96C>G (N32K) and 128T>A (V43E), in the CAV3 gene in two unrelated Japanese families with LGMD-1C. Both probands presented with elevated serum CK level with calf muscle hypertrophy in their childhood but without apparent muscle weakness. However, their mothers showed mild limb-girdle weakness in addition to high CK level. Caveolin-3 was deficient and caveolae were lacking in muscles from both patients. Our data confirm that caveolin-3 deficiency causes LGMD-1C and expand the variability in CAV3 gene mutations."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2004.08.008"xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2004.08.008"xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Murayama K."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Murayama K."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Mochizuki M."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Mochizuki M."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Noguchi S."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Noguchi S."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Hayashi Y.K."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Hayashi Y.K."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Nishino I."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Nishino I."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Nonaka I."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Nonaka I."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Murakami N."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Murakami N."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Sugie K."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/author | "Sugie K."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/15564037 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |