N Atanassova, JM Fusté, S Wanrooij… - Human molecular …, 2011 - Oxford Univ Press A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to a dominant disease with progressive external ophthalmoplegia and other symptoms. The ... Cited by 4 - Related articles - All 5 versions
G Pfeffer, S Sirrs, NK Wade… - The Canadian Journal of …, 2011 - CJNS Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome characterized by slowly progressive bilateral ptosis and ophthalmoparesis. Patients with CPEO have variable presentations ranging from pure CPEO to a CPEO “plus” syndrome with other ... Cited by 5 - Related articles - All 3 versions
D Ronchi, E Fassone, A Bordoni, M Sciacco… - Journal of the …, 2011 - Elsevier 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 ... Related articles - All 3 versions
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