These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
    Author: Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C.
    Journal: Nat Genet; 2001 Jul; 28(3):211-2. PubMed ID: 11431686.
    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.
    [Abstract] [Full Text] [Related] [New Search]