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Article

Remarkable infidelity of polymerase γA associated with mutations in <i>POLG1</i> exonuclease domain

14 Oct 2003

Abstract excerpt

OBJECTIVE: To better understand the still unknown pathologic mechanism involved in the accumulation of multiple mtDNA deletions in stable tissues. METHODS: A large-scale screening of mtDNA molecules from skeletal muscle was performed in 14 patients with progressive external ophthalmoplegia (PEO) and 2 patients with mitochondrial neurogastrointestinal encephalomyopathy carrying mutations on ANT1, C10ORF2 or POLG1,...

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PMID: 14557557
DOI: 10.1212/01.wnl.0000092303.13864.be

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