| http://purl.uniprot.org/citations/17376686 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17376686 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17376686 | http://www.w3.org/2000/01/rdf-schema#comment | "The slow alpha-tropomyosin (TPM3) gene has to date been associated with few cases of both dominant and recessive nemaline myopathies. We report the identification of a p.Arg167His mutation in a four-generation family presenting with a mild classical form of the disease. Clinically, there was no correlation between the age at presentation and the severity of the disease. The dominant-negative p.Arg167His mutation is a recurrent mutation, previously reported in one sporadic case. Histological studies showed discrepancy between the two reports. While a type II fibre predominance was described in the sporadic case, we observed an almost complete type I fibre predominance. This study emphasizes the variability in histopathological phenotypes seen with TPM3 mutations."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2007.01.017"xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2007.01.017"xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Laing N."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Laing N."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Monnier N."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Monnier N."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Toutain A."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Toutain A."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Dubas F."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Dubas F."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Penisson-Besnier I."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/author | "Penisson-Besnier I."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/pages | "330-337"xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/pages | "330-337"xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/title | "A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/title | "A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study."xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/volume | "17"xsd:string |
| http://purl.uniprot.org/citations/17376686 | http://purl.uniprot.org/core/volume | "17"xsd:string |