Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Authors
Triepels, RH van den Heuvel, LP Loeffen, JLCM Buskens, CAF Smeets, RJP Gozalbo, MER Budde, SMS Mariman, EC Wijburg, FA Barth, PG Trijbels, JMF Smeitink, JAM
Citation
Rh. Triepels et al., Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I, ANN NEUROL, 45(6), 1999, pp. 787-790
Citations number
19
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
45
Issue
6
Year of publication
1999
Pages
787 - 790
Database
ISI
SICI code
0364-5134(199906)45:6<787:LSAWAM>2.0.ZU;2-N
Abstract
Leigh syndrome is the phenotypical expression of a genetically heterogeneou s cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the f irst missense mutation within the nuclear encoded complex I subunit, NDUFS7 , in 2 siblings with neuropathologically proven complex I-deficient Leigh s yndrome.