title: Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
authors.affiliation: Paediatric Neurology and Muscle Disease Unit, G. Gaslini Institute, Genoa, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Assereto
authors.forename: A
authors.initials: A
authors.lastname: Robbiano
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: D
authors.initials: D
authors.lastname: Cassandrini
authors.forename: C
authors.initials: C
authors.lastname: Panicucci
authors.forename: G
authors.initials: G
authors.lastname: Brigati
authors.forename: R
authors.initials: R
authors.lastname: Biancheri
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: H
authors.initials: H
authors.lastname: Trucks
authors.forename: T
authors.initials: T
authors.lastname: Sander
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: E
authors.initials: E
authors.lastname: Gazzerro
mesh_terms: D001391:Azo Compounds; D001921:Brain / Q000473:pathology; D002648:Child; D042967:Electron Transport Complex I / Q000172:deficiency* / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009245:NADH Dehydrogenase / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D001391:Azo Compounds; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C427643:NDUFS4 protein, human; C011049:oil red O