Ontology highlight
ABSTRACT:
SUBMITTER: Perrone E
PROVIDER: S-EPMC7263430 | biostudies-literature | 2020 Jan-Mar
REPOSITORIES: biostudies-literature
Genetics and molecular biology 20200101 2
Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome. Homozygous pathogenic variants in the C12orf65 gene impair the mitochondrial oxidative phosphorylation system. We describe a new case of Leigh syndrome caused by a novel pathogenic variant of the C12orf65 gene resulting in the lack of the Gly-Gly-Gln (GGQ) domain in the predicted protein, and r ...[more]