title: Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.
authors.affiliation: Department of Medical Biochemistry & Medical Biology, University of Bari, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Petruzzella
authors.forename: G
authors.initials: G
authors.lastname: Di Giacinto
authors.forename: S
authors.initials: S
authors.lastname: Scacco
authors.forename: F
authors.initials: F
authors.lastname: Piemonte
authors.forename: A
authors.initials: A
authors.lastname: Torraco
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: R
authors.initials: R
authors.lastname: Vergari
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: D
authors.initials: D
authors.lastname: Longo
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: S
authors.initials: S
authors.lastname: Papa
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018450:Disease Progression; D042967:Electron Transport Complex I / Q000235:genetics*; D006801:Humans; D007558:Italy; D007888:Leigh Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics; D024101:Mitochondrial Proteins; D009154:Mutation; D021122:Protein Subunits / Q000235:genetics
chemical_list: D024101:Mitochondrial Proteins; D021122:Protein Subunits; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I