| http://purl.uniprot.org/citations/25272951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25272951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25272951 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe a slowly progressive myopathy in 7 unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 in skeletal muscle, whereas 1 showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen synthase. Our results indicate that either depletion of glycogenin-1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with GYG1 mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin-1."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.24284"xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.24284"xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Nilsson J."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Nilsson J."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Michel F."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Michel F."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Engel A.G."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Engel A.G."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Malfatti E."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Malfatti E."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Romero N.B."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Romero N.B."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Akman H.O."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Akman H.O."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "DiMauro S."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "DiMauro S."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Hernandez-Lain A."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Hernandez-Lain A."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Van den Bergh P."xsd:string |
| http://purl.uniprot.org/citations/25272951 | http://purl.uniprot.org/core/author | "Van den Bergh P."xsd:string |