Ontology highlight
ABSTRACT:
SUBMITTER: Tiranti V
PROVIDER: S-EPMC1377632 | biostudies-other | 1998 Dec
REPOSITORIES: biostudies-other
Tiranti V V Hoertnagel K K Carrozzo R R Galimberti C C Munaro M M Granatiero M M Zelante L L Gasparini P P Marzella R R Rocchi M M Bayona-Bafaluy M P MP Enriquez J A JA Uziel G G Bertini E E Dionisi-Vici C C Franco B B Meitinger T T Zeviani M M
American journal of human genetics 19981201 6
Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial respiratory chain, in infancy and childhood. No mutations in any of the genes encoding the COX-protein subunits have been identified in LD(COX-) patients. Using complementation assays based on the fusion of LD(COX-) cell lines with several rodent/human rho0 hybrids, we demonstrated that the COX phenotype was rescued by the presence of a normal human chromosome 9. Link ...[more]