| http://purl.uniprot.org/citations/16361598 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16361598 | http://www.w3.org/2000/01/rdf-schema#comment | "Detailed clinical, neuroradiological, histological, biochemical, and genetic investigations were undertaken in a child suffering from Leigh syndrome. The clinical symptoms started at age five months and led to a severe progressive neurodegenerative disorder causing epilepsy, psychomotor retardation, and tetraspasticity. Biochemical measurement of skeletal muscle showed a severe decrease in mitochondrial complex II. Sequencing of SDHA revealed compound heterozygosity for a nonsense mutation in exon 4 (W119X) and a missense mutation in exon 3 (A83V), both absent in normal controls. In six additional patients--five with Leigh or Leigh-like syndrome and one with neuropathy and ataxia associated with isolated deficiency of complex II--mutations in SDHA were not detected, indicating genetic heterogeneity."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.org/dc/terms/identifier | "doi:10.1136/jnnp.2005.067041"xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Klopstock T."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Abicht A."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Horvath R."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Lochmuller H."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Gempel K."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Holinski-Feder E."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Jaksch M."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/author | "Laner A."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/name | "J Neurol Neurosurg Psychiatry"xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/pages | "74-76"xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/title | "Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)."xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://purl.uniprot.org/core/volume | "77"xsd:string |
| http://purl.uniprot.org/citations/16361598 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16361598 |
| http://purl.uniprot.org/citations/16361598 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16361598 |
| http://purl.uniprot.org/uniprot/P31040#attribution-9E60EC9DAA86873C97B8EF19BFE37EB3 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/16361598 |