| http://purl.uniprot.org/citations/20186852 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20186852 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20186852 | http://www.w3.org/2000/01/rdf-schema#comment | "We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.21839"xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.21839"xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Nuernberg P."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Nuernberg P."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Adams S."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Adams S."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Bonne G."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Bonne G."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Budde B."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Budde B."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Geier C."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Geier C."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Spuler S."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Spuler S."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Knoblauch H."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Knoblauch H."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Rudolph A."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Rudolph A."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Schulz-Menger J."xsd:string |
| http://purl.uniprot.org/citations/20186852 | http://purl.uniprot.org/core/author | "Schulz-Menger J."xsd:string |