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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors: Van Goethem, G  Dermaut, B  Lofgren, A  Martin, JJ  Van Broeckhoven, C 
Citation: Van Goethem G, etal., Nat Genet 2001 Jul;28(3):211-2.
Pubmed: (View Article at PubMed) PMID:11431686
DOI: Full-text: DOI:10.1038/90034

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.

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RGD ID: 737726
Created: 2004-02-26
Species: All species
Last Modified: 2004-02-26
Status: ACTIVE



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