Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem, B Dermaut, A Löfgren, JJ Martin… - Nature …, 2001 - nature.com
G Van Goethem, B Dermaut, A Löfgren, JJ Martin, C Van Broeckhoven
Nature genetics, 2001•nature.comProgressive 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 replication.
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 replication.
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 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 replication.
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