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

被引：0

作者：

Gert Van Goethem

Bart Dermaut

Ann Löfgren

Jean-Jacques Martin

Christine Van Broeckhoven

机构：

[1] Flanders Interuniversity Institute for Biotechnology,Department of Molecular Genetics

[2] Born-Bunge Foundation,Division of Neurology

[3] University of Antwerp,Department of Medicine

[4] University Hospital of Antwerp,undefined

[5] Laboratory of Neuropathology,undefined

[6] Born-Bunge Foundation,undefined

[7] University of Antwerp,undefined

来源：

Nature Genetics | 2001年 / 28卷

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摘要：

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.

引用

页码：211 / 212

页数：1

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