| http://purl.uniprot.org/citations/17363246 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17363246 | http://www.w3.org/2000/01/rdf-schema#comment | "We identified a novel G3283A transition in the mitochondrial DNA tRNA(Leu (UUR)) gene in a patient with ptosis, ophthalmoparesis and hyporeflexia. Muscle biopsy showed cytochrome oxidase positive ragged-red fibers, and defects of complexes I, III and IV of the mitochondrial respiratory chain. The mutation was heteroplasmic in muscle of the proband, being absent in her blood. Ragged-red fibers harbored greater levels of mutant genomes than normal fibers. The G3283A mutation affects a strictly conserved base pair in the TPsiC stem of the gene and was not found in controls, thus satisfying the accepted criteria for pathogenicity."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2007.01.015"xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Martin R."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Jimenez S."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Arenas J."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Campos Y."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Rueda A."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Cabello A."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Mendoza L.M."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Del Hoyo P."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/author | "Maeso E."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/name | "Neuromuscul Disord"xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/pages | "415-418"xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/title | "A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy."xsd:string |
| http://purl.uniprot.org/citations/17363246 | http://purl.uniprot.org/core/volume | "17"xsd:string |
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