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

R H Triepels; L P van den Heuvel; J L Loeffen; C A Buskens; R J Smeets; M E Rubio Gozalbo; S M Budde; E C Mariman; F A Wijburg; P G Barth; J M Trijbels; J A Smeitink

doi:10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6

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

Ann Neurol. 1999 Jun;45(6):787-90. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6.

Authors

R H Triepels¹, L P van den Heuvel, J L Loeffen, C A Buskens, R J Smeets, M E Rubio Gozalbo, S M Budde, E C Mariman, F A Wijburg, P G Barth, J M Trijbels, J A Smeitink

Affiliation

¹ Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, The Netherlands.

PMID: 10360771
DOI: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Infant
Leigh Disease / genetics*
Male
Mutation / genetics*
NAD(P)H Dehydrogenase (Quinone) / genetics*

Substances

NAD(P)H Dehydrogenase (Quinone)