| http://purl.uniprot.org/citations/23856421 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23856421 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23856421 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital disorders of glycosylation (CDG) are rare genetic defects mainly in the post-translational modification of proteins via attachment of carbohydrate chains. We describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan immunostaining with glycoepitope-specific antibodies in a pattern diagnostic of dystroglycanopathy. Carbohydrate deficient transferrin testing showed a pattern pointing to a CDG type I. Sanger sequencing of DPM1 (dolichol-P-mannose synthase subunit 1) revealed a novel Gly > Val change c.455G > T missense mutation resulting in p.Gly152Val) of unknown pathogenicity and deletion/duplication analysis revealed an intragenic deletion from exons 3 to 7 on the other allele. DPM1 activity in fibroblasts was reduced by 80%, while affinity for the substrate was not depressed, suggesting a decrease in the amount of active enzyme. Transfected cells expressing tagged versions of wild type and the p.Gly152Val mutant displayed reduced binding to DPM3, an essential, non-catalytic subunit of the DPM complex, suggesting a mechanism for pathogenicity. The present case is the first individual described with DPM1-CDG (CDG-Ie) to also have clinical and muscle biopsy findings consistent with dystroglycanopathy."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2013.06.016"xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2013.06.016"xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Rush J."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Rush J."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Freeze H.H."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Freeze H.H."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Moore S.A."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Moore S.A."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Mehta L."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Mehta L."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Campbell K.P."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Campbell K.P."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Raymond K.M."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Raymond K.M."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Ng B.G."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Ng B.G."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Waechter C.J."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Waechter C.J."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Yang A.C."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Yang A.C."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Willer T."xsd:string |
| http://purl.uniprot.org/citations/23856421 | http://purl.uniprot.org/core/author | "Willer T."xsd:string |