Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved in mtDNA replication and stability. They include POLG1 , the gene encoding th...

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Veröffentlicht in:Journal of neurology 2008-09, Vol.255 (9), p.1384-1391
Hauptverfasser: Virgilio, R., Ronchi, D., Hadjigeorgiou, G. M., Bordoni, A., Saladino, F., Moggio, M., Adobbati, L., Kafetsouli, D., Tsironi, E., Previtali, S., Papadimitriou, A., Bresolin, N., Comi, G. P.
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Sprache:eng
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