Ontology highlight
ABSTRACT:
SUBMITTER: Mansour H
PROVIDER: S-EPMC6688892 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Mansour Hicham H Sabbagh Sandra S Bizzari Sami S El-Hayek Stephany S Chouery Eliane E Gambarini Alicia A Gencik Martin M Mégarbané André A
Journal of pediatric genetics 20190416 3
Cytochrome c oxidase deficiency is caused by mutations in any of at least 30 mitochondrial and nuclear genes involved in mitochondrial complex IV biogenesis and structure, including the recently identified <i>PET100</i> gene. Here, we report two families, of which one is consanguineous, with two affected siblings each. In one family, the siblings presented with developmental delay, seizures, lactic acidosis, abnormal brain magnetic resonance imaging, and low muscle mitochondrial complex IV activ ...[more]