Ontology highlight
ABSTRACT:
SUBMITTER: Feichtinger RG
PROVIDER: S-EPMC5540226 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Feichtinger René G RG Brunner-Krainz Michaela M Alhaddad Bader B Wortmann Saskia B SB Kovacs-Nagy Reka R Stojakovic Tatjana T Erwa Wolfgang W Resch Bernhard B Windischhofer Werner W Verheyen Sarah S Uhrig Sabine S Windpassinger Christian C Locker Felix F Makowski Christine C Strom Tim M TM Meitinger Thomas T Prokisch Holger H Sperl Wolfgang W Haack Tobias B TB Mayr Johannes A JA
Oxidative medicine and cellular longevity 20170719
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation a ...[more]