title: Infantile mitochondrial disorders.
abstract: Mitochondrial disorders encompass any medical specialty and affect patients at any age. Likewise, the spectrum of clinical and genetic signatures of these disorders is ample, making a precise diagnosis difficult. We will report some of the major clinical phenotypes observed in infancy, their underlining molecular features, and will propose an approach to reach a more complete diagnosis.
authors.affiliation: Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Fiorella
authors.initials: F
authors.lastname: Piemonte
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Simona
authors.initials: S
authors.lastname: Lucioli
authors.forename: Teresa
authors.initials: T
authors.lastname: Rizza
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Meschini
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D001921:Brain / Q000378:metabolism / Q000473:pathology; D003067:Coenzymes / Q000172:deficiency; D004272:DNA, Mitochondrial / Q000235:genetics; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D013389:Succinate-CoA Ligases / Q000172:deficiency / Q000235:genetics; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency
chemical_list: D003067:Coenzymes; D004272:DNA, Mitochondrial; D014451:Ubiquinone; D013389:Succinate-CoA Ligases; C518788:SUCLA2 protein, human; D042967:Electron Transport Complex I; C024989:coenzyme Q10