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- Title
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
- Authors
Van Goethem, G; Dermaut, B; Löfgren, A; Martin, J J; Van Broeckhoven, C
- Abstract
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication.
- Publication
Nature genetics, 2001, Vol 28, Issue 3, p211
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/90034