| http://purl.uniprot.org/citations/21596602 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21596602 | http://www.w3.org/2000/01/rdf-schema#comment | "Respiratory chain enzymes consist of multiple subunits encoded either by the mitochondrial or by the nuclear genome. Recently the first X-chromosomal mutations in complex I deficient males have been described. Heterozygous female carriers did not seem to be affected. Here, we describe a girl initially presenting with mild muscular hypotonia, a moderate lactic acidosis and an increased beta-hydroxybutyrate/acetoacetate ratio. Biochemical investigations of a muscle biopsy revealed a deficiency in the amount and activity of complex I. Mutation screening of all structural subunits of complex I identified a heterozygous mutation c.94G>C, p.Gly32Arg in the X-chromosomal NDUFA1 gene. Analysis of the cDNA showed that 72% of the expressed mRNA was mutated in the muscle biopsy sample. Investigation of the X-inactivation pattern demonstrated that 74% of the paternally inherited allele was active in the muscle. This is the first report of an X-chromosomally inherited respiratory chain defect in a heterozygous female."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2011.04.010"xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Koch J."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Haack T.B."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Mayr J.A."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Sperl W."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Zimmermann F.A."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Bodamer O."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Rauscher C."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/author | "Madignier F."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/pages | "358-361"xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/title | "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency."xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://purl.uniprot.org/core/volume | "103"xsd:string |
| http://purl.uniprot.org/citations/21596602 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/21596602 |
| http://purl.uniprot.org/citations/21596602 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/21596602 |
| http://purl.uniprot.org/uniprot/#_O15239-mappedCitation-21596602 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/21596602 |
| http://purl.uniprot.org/uniprot/#_Q6IBB5-mappedCitation-21596602 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/21596602 |
| http://purl.uniprot.org/uniprot/O15239 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/21596602 |
| http://purl.uniprot.org/uniprot/Q6IBB5 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/21596602 |