| http://purl.uniprot.org/citations/20045868 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20045868 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20045868 | http://www.w3.org/2000/01/rdf-schema#comment | "Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of the hands and feet for which few genes have been identified. Here we describe a five-generation family with DA1 segregating as an autosomal dominant disorder with complete penetrance. Genome-wide linkage analysis using Affymetrix GeneChip Mapping 10K data from 12 affected members of this family revealed a multipoint LOD(max) of 3.27 on chromosome 12q. Sequencing of the slow-twitch skeletal muscle myosin binding protein C1 (MYBPC1), located within the linkage interval, revealed a missense mutation (c.706T>C) that segregated with disease in this family and causes a W236R amino acid substitution. A second MYBPC1 missense mutation was identified (c.2566T>C)(Y856H) in another family with DA1, accounting for an MYBPC1 mutation frequency of 13% (two of 15). Skeletal muscle biopsies from affected patients showed type I (slow-twitch) fibers were smaller than type II fibers. Expression of a green fluorescent protein (GFP)-tagged MYBPC1 construct containing WT and DA1 mutations in mouse skeletal muscle revealed robust sarcomeric localization. In contrast, a more diffuse localization was seen when non-fused GFP and MYBPC1 proteins containing corresponding MYBPC3 amino acid substitutions (R326Q, E334K) that cause hypertrophic cardiomyopathy were expressed. These findings reveal that the MYBPC1 is a novel gene responsible for DA1, though the mechanism of disease may differ from how some cardiac MYBPC3 mutations cause hypertrophic cardiomyopathy."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp587"xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp587"xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Choi R."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Choi R."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Pestronk A."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Pestronk A."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Miller S.E."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Miller S.E."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Gurnett C.A."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Gurnett C.A."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "McCall K."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "McCall K."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Weihl C.C."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Weihl C.C."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Connolly A.M."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Connolly A.M."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Druley T.E."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Druley T.E."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Ju J.S."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Ju J.S."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Dobbs M.B."xsd:string |
| http://purl.uniprot.org/citations/20045868 | http://purl.uniprot.org/core/author | "Dobbs M.B."xsd:string |