| http://purl.uniprot.org/citations/14520662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14520662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14520662 | http://www.w3.org/2000/01/rdf-schema#comment | "Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles. Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. The myopathy was characterized by muscle weakness and wasting with onset in childhood and slow progression, but no overt cardiomyopathy. Slow, oxidative, type 1 muscle fibers showed large inclusions consisting of slow/beta-cardiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.10693"xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.10693"xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Oldfors A."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Tajsharghi H."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Tajsharghi H."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Lindberg C."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Lindberg C."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Henriksson K.-G."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Henriksson K.-G."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Lindvall B."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Lindvall B."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Thornell L.-E."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/author | "Thornell L.-E."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/pages | "494-500"xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/pages | "494-500"xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/title | "Myosin storage myopathy associated with a heterozygous missense mutation in MYH7."xsd:string |
| http://purl.uniprot.org/citations/14520662 | http://purl.uniprot.org/core/title | "Myosin storage myopathy associated with a heterozygous missense mutation in MYH7."xsd:string |