Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions
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DOI: 10.1002/mgg3.1921
Abstract: This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal‐inherited mitochondrial progressive external ophthalmoplegia (PEO). read more here.
Keywords: multiple mtdna; progressive external; patients multiple; external ophthalmoplegia ... See more keywords
mtDNA deletions responsible for unsuccessful pregnancy after in- vitro fertilization
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DOI: 10.18502/ijrm.v13i7.7373
Abstract: With interest we read the article by Mirabutalebi and colleagues about a study of 52 females in whom two consecutive trials of in vitro fertilizations failed to result in a successful pregnancy (1). Infertility in… read more here.
Keywords: pregnancy; mtdna deletions; vitro fertilization; mtdna ... See more keywords
Ophthalmoplegia in Mitochondrial Disease
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DOI: 10.3349/ymj.2018.59.10.1190
Abstract: Purpose To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. Materials and Methods Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21… read more here.
Keywords: large scale; mtdna deletions; disease; mitochondrial disease ... See more keywords
Genetically controlled mtDNA deletions prevent ROS damage by arresting oxidative phosphorylation
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DOI: 10.7554/elife.76095
Abstract: Deletion of mitochondrial DNA in eukaryotes is currently attributed to rare accidental events associated with mitochondrial replication or repair of double-strand breaks. We report the discovery that yeast cells arrest harmful intramitochondrial superoxide production by… read more here.
Keywords: oxidative phosphorylation; genetically controlled; controlled mtdna; deletions prevent ... See more keywords