title: Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
authors.affiliation: Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
authors.forename: M
authors.identifier: 0000-0001-8228-7639
authors.initials: M
authors.lastname: Gigante
authors.affiliation: Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Diella
authors.affiliation: Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.|Unit of Pediatric Nephrology, University Hospital "Policlinico Consorziale - Giovanni XXIII", Bari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Santangelo
authors.affiliation: Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP "Città della Speranza", Padua, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Trevisson
authors.affiliation: Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP "Città della Speranza", Padua, Italy.
authors.forename: M J
authors.initials: MJ
authors.lastname: Acosta
authors.affiliation: Units of Nephrology and Pathology Anatomy, "Ospedale di Circolo e Fondazione Macchi", Varese, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Amatruda
authors.affiliation: Units of Nephrology and Pathology Anatomy, "Ospedale di Circolo e Fondazione Macchi", Varese, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Finzi
authors.affiliation: Division of Nephrology, Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Caridi
authors.affiliation: Division of Nephrology, Dialysis and Transplantation, Department of Pediatrics, Azienda Ospedaliera-University of Padua, Padua, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Murer
authors.affiliation: Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University "Aldo Moro", Bari, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Accetturo
authors.affiliation: Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Ranieri
authors.affiliation: Division of Nephrology, Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy.
authors.forename: G M
authors.initials: GM
authors.lastname: Ghiggeri
authors.affiliation: Unit of Pediatric Nephrology, University Hospital "Policlinico Consorziale - Giovanni XXIII", Bari, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Giordano
authors.affiliation: Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Grandaliano
authors.affiliation: Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP "Città della Speranza", Padua, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Salviati
authors.affiliation: Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University "Aldo Moro", Bari, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Gesualdo
mesh_terms: D001259:Ataxia / Q000235:genetics* / Q000378:metabolism; D003198:Computer Simulation; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism; D018908:Muscle Weakness / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009404:Nephrotic Syndrome / Q000150:complications*; D010375:Pedigree; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
chemical_list: C032165:ubiquinone 6; D014451:Ubiquinone; C024989:coenzyme Q10; C025204:Ubiquinone Q2