Article
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Lancet (London, England) - 1 Jan 2000
Luoma Petri, Melberg Atle, Rinne Juha O, Kaukonen Jyrki A, Nupponen Nina N, Chalmers Richard M, Oldfors Anders, Rautakorpi Ilkka, Peltonen Leena, Majamaa Kari, Somer Hannu, Suomalainen Anu
Abstract excerpt
BACKGROUND: Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA. Mitochondrial dysfunction is also suspected to participate in the pathogenesis of Parkinson's disease. However, no primary...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.