POLG1Mutations Associated With Progressive Encephalopathy in Childhood
Open Access
- 1 August 2006
- journal article
- case report
- Published by Oxford University Press (OUP) in Journal of Neuropathology and Experimental Neurology
- Vol. 65 (8) , 758-768
- https://doi.org/10.1097/01.jnen.0000229987.17548.6e
Abstract
We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol γ), in 7 children with proKeywords
This publication has 36 references indexed in Scilit:
- POLG mutations in Alpers syndromeNeurology, 2005
- Consequences of mutations in human DNA polymerase γGene, 2005
- Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutationsNeurology, 2005
- Mutations in the Spacer Region of Drosophila Mitochondrial DNA Polymerase Affect DNA Binding, Processivity, and the Balance between Pol and Exo FunctionPublished by Elsevier ,2005
- Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic studyThe Lancet, 2004
- POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletionsHuman Mutation, 2003
- Clinical and Genetic Heterogeneity in Progressive External Ophthalmoplegia Due to Mutations in Polymerase γArchives of Neurology, 2003
- Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegiaAnnals of Neurology, 2002
- Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletionsNature Genetics, 2001
- Replication of animal mitochondrial DNACell, 1982