Ontology highlight
ABSTRACT:
SUBMITTER: Hoefs SJ
PROVIDER: S-EPMC3061993 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20101208 3
Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle tissue. To find the genetic cause of the complex I deficiency, we screened the mitochondrial DNA and the nuclear-encoded subunits of complex I. We identified compound-heterozygous mutations in the NDUFA10 gene, encoding an accessory subunit of complex I. The first mutation disru ...[more]