| http://purl.uniprot.org/citations/23798481 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23798481 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23798481 | http://www.w3.org/2000/01/rdf-schema#comment | "Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.23963"xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.23963"xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Nilsson J."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Nilsson J."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Eggers C."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Eggers C."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Dimauro S."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Dimauro S."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Engel A.G."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Engel A.G."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Romero N.B."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Romero N.B."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Laforet P."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Laforet P."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Schoser B."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Schoser B."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Akman H.O."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Akman H.O."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Wahbi K."xsd:string |
| http://purl.uniprot.org/citations/23798481 | http://purl.uniprot.org/core/author | "Wahbi K."xsd:string |