Title: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Authors: Van Goethem, G
Dermaut, Bart
Lofgren, A
Martin, JJ
Van Broeckhoven, C # ×
Issue Date: Jul-2001
Publisher: Nature america inc
Series Title: Nature genetics vol:28 issue:3 pages:211-212
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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