Article
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
American journal of human genetics - 1 Dec 1998
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy M P, Enriquez J A, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M
Abstract excerpt
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...
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