Article
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
Biochemical and biophysical research communications - 18 Aug 2000
Budde S M, van den Heuvel L P, Janssen A J, Smeets R J, Buskens C A, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels J M, Smeitink J A
Abstract excerpt
Combined OXPHOS-system enzyme deficiencies are observed in approximately 25% of all OXPHOS-system disturbances. Of these, combined complex I and III deficiency is relatively scarce. So far, only mtDNA and thymidine phosphorylase (TP) mutations have been associated with combined OXPHOS-system disturbances. In this report we show, for the first time, that a nuclear gene mutation in a structural, nuclear encoded...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.