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

(2001) NATURE GENETICS. 28(3). p.211-212
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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.
Keywords
MULTIPLE DELETIONS, MITOCHONDRIAL-DNA POLYMERASE, REPLICATION, DISORDER, GAMMA, GENE

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Citation

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Chicago
Van Goethem, Gert, Bart Dermaut, Ann Löfgren, Jean-Jacques Martin, and Christine Van Broeckhoven. 2001. “Mutation of POLG Is Associated with Progressive External Ophthalmoplegia Characterized by mtDNA Deletions.” Nature Genetics 28 (3): 211–212.
APA
Van Goethem, Gert, Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C. (2001). Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. NATURE GENETICS, 28(3), 211–212.
Vancouver
1.
Van Goethem G, Dermaut B, Löfgren A, Martin J-J, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. NATURE GENETICS. 2001;28(3):211–2.
MLA
Van Goethem, Gert, Bart Dermaut, Ann Löfgren, et al. “Mutation of POLG Is Associated with Progressive External Ophthalmoplegia Characterized by mtDNA Deletions.” NATURE GENETICS 28.3 (2001): 211–212. Print.
@article{3201079,
  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.},
  author       = {Van Goethem, Gert and Dermaut, Bart and L{\"o}fgren, Ann and Martin, Jean-Jacques and Van Broeckhoven, Christine},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keyword      = {MULTIPLE DELETIONS,MITOCHONDRIAL-DNA POLYMERASE,REPLICATION,DISORDER,GAMMA,GENE},
  language     = {eng},
  number       = {3},
  pages        = {211--212},
  title        = {Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions},
  url          = {http://dx.doi.org/10.1038/90034},
  volume       = {28},
  year         = {2001},
}

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