| http://purl.uniprot.org/citations/22019070 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22019070 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22019070 | http://www.w3.org/2000/01/rdf-schema#comment | "The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there was no acquisition of developmental milestones, and the muscles of the children were dystrophic. Plasma and CSF lactate levels were normal, but the activities of mitochondrial complex I and IV were markedly decreased. Using linkage analysis in the family, followed by whole exome sequencing of a single patient, we identified a pathogenic mutation in the AIFM1 gene which segregated with the disease state and was absent in 86 anonymous controls. This is the second report of a mutation in the AIFM1 gene, extending the clinical spectrum to include prenatal ventriculomegaly and underscores the importance of AIF for complex I assembly. In summary, linkage analysis followed by exome sequencing of a single patient is a cost-effective approach for the identification of disease causing mutations in small non-consanguineous families."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2011.09.020"xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2011.09.020"xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Elpeleg O."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Elpeleg O."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Kaestner K.H."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Kaestner K.H."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Saada A."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Saada A."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Shaag A."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Shaag A."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Zenvirt S."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Zenvirt S."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Ben-Neriah Z."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Ben-Neriah Z."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Berger I."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Berger I."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Dor-Wolman T."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Dor-Wolman T."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Nadjari M."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Nadjari M."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Raas-Rothschild A."xsd:string |
| http://purl.uniprot.org/citations/22019070 | http://purl.uniprot.org/core/author | "Raas-Rothschild A."xsd:string |