| http://purl.uniprot.org/citations/26556812 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26556812 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26556812 | http://www.w3.org/2000/01/rdf-schema#comment | "Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10048-015-0465-x"xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10048-015-0465-x"xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Cao M."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Cao M."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Salviati L."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Salviati L."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Carelli V."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Carelli V."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Maresca A."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Maresca A."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Valentino M.L."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Valentino M.L."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Carrozzo R."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Carrozzo R."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Pegoraro E."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Pegoraro E."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Torraco A."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Torraco A."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Cassina M."xsd:string |
| http://purl.uniprot.org/citations/26556812 | http://purl.uniprot.org/core/author | "Cassina M."xsd:string |