title: Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
abstract: A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.
authors.affiliation: Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 20, 6500 HB Nijmegen, The Netherlands.
authors.forename: S M S
authors.initials: SM
authors.lastname: Budde
authors.forename: L P W J
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: R J P
authors.initials: RJ
authors.lastname: Smeets
authors.forename: D
authors.initials: D
authors.lastname: Skladal
authors.forename: J A
authors.initials: JA
authors.lastname: Mayr
authors.forename: C
authors.initials: C
authors.lastname: Boelen
authors.forename: V
authors.initials: V
authors.lastname: Petruzzella
authors.forename: S
authors.initials: S
authors.lastname: Papa
authors.forename: J A M
authors.initials: JA
authors.lastname: Smeitink
mesh_terms: D042967:Electron Transport Complex I; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*
chemical_list: D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C427643:NDUFS4 protein, human