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pubmed-article:16715201pubmed:abstractTextProgressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with defective enzymatic activities of oxidative phosphorylation (OXPHOS), depletion of mitochondrial DNA (mtDNA) and/or accumulation of mtDNA mutations and deletions. Recent positional cloning studies have linked the disease to four different chromosomal loci. Mutations in POLG1 are a frequent cause of this disorder.lld:pubmed
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pubmed-article:16715201pubmed:articleTitleA new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.lld:pubmed
pubmed-article:16715201pubmed:affiliationDipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, via Sergio Pansini 5, 80131, Napoli, Italia. lusantor@unina.itlld:pubmed
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