Article
Oxidative phosphorylation disease diagnosis.
Seminars in neurology - 1 Jan 1999
Shoffner J M
Abstract excerpt
Although the mitochondrial (mtDNA) encodes only 13 polypeptide subunits of the oxidative phosphorylation (OXPHOS) enzymes, approximately 1,000 proteins are estimated to be necessary for proper OXPHOS function. Over the past ten years, a wide variety of adult and pediatric OXPHOS diseases were found to be caused by or associated with mtDNA mutations and nuclear DNA mutations. These advances enhanced the ability to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.