title: Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
abstract: Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.
authors.affiliation: Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, The Netherlands.
authors.forename: R H
authors.initials: RH
authors.lastname: Triepels
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: J L
authors.initials: JL
authors.lastname: Loeffen
authors.forename: C A
authors.initials: CA
authors.lastname: Buskens
authors.forename: R J
authors.initials: RJ
authors.lastname: Smeets
authors.forename: M E
authors.initials: ME
authors.lastname: Rubio Gozalbo
authors.forename: S M
authors.initials: SM
authors.lastname: Budde
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
mesh_terms: D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone)