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

@article{Goethem2001MutationOP,
  title={Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions},
  author={G. F. Van Goethem and Bart Dermaut and Ann L{\"o}fgren and J V Martin and Christine Van Broeckhoven},
  journal={Nature Genetics},
  year={2001},
  volume={28},
  pages={211-212}
}
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 γ (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… CONTINUE READING
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