Ontology highlight
ABSTRACT:
SUBMITTER: Gaignard P
PROVIDER: S-EPMC3738829 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
American journal of human genetics 20130801 2
Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. Cytochrome c1, the heme-containing component of complex III, mediates the transfer of electrons from the Rieske iron-sulfur protein to ...[more]