ArticleJournal of the neurological sciences2011
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Article in Journal of the neurological sciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.Pharmaceutics · 2022Review
- Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.Genes · 2020Article
- Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2014Article
- Damaged mitochondrial DNA replication system and the development of diabetic retinopathy.Antioxidants & redox signaling · 2012Article
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.
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