| http://purl.uniprot.org/citations/19553118 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19553118 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19553118 | http://www.w3.org/2000/01/rdf-schema#comment | "Cap disease is a rare congenital myopathy associated with skeletal malformations and respiratory involvement. Abnormally arranged myofibrils taking the appearance of a "cap" are the morphological hallmark of this entity. We report a case of cap disease concerning a 42-year-old man, without any family history and presenting a p.Arg168His mutation on the TPM3 gene. His first biopsy at 7years had only shown selective type I hypotrophy. Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2009.06.365"xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2009.06.365"xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Fernandez C."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Fernandez C."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Lunardi J."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Lunardi J."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Figarella-Branger D."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Figarella-Branger D."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Monnier N."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Monnier N."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Pouget J."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Pouget J."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Pellissier J.F."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Pellissier J.F."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Franques J."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "Franques J."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "De Paula A.M."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/author | "De Paula A.M."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/19553118 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |