Ontology highlight
ABSTRACT:
Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelaide, H.sapiens, 19k array, version 1").
ORGANISM(S): Homo sapiens
DISEASE(S): mitochondrial complex I deficiency
SUBMITTER: Lee Parry
PROVIDER: E-MEXP-119 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
The Journal of clinical investigation 20040901 6
complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I-deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines from 10 unrelated patients. Two of the patients were found to have mitochondrial DNA mu ...[more]