Clinical and Molecular Features of POLG-Related Mitochondrial Disease
نویسندگان
چکیده
منابع مشابه
Clinical and molecular features of POLG-related mitochondrial disease.
The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol γ) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neu...
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Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological ...
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ژورنال
عنوان ژورنال: Cold Spring Harbor Perspectives in Biology
سال: 2013
ISSN: 1943-0264
DOI: 10.1101/cshperspect.a011395