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A novel heteroplasmic tRNALeu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia

✍ Scribed by Elena Cardaioli; Paola Da Pozzo; Elena Radi; Maria Teresa Dotti; Antonio Federico


Book ID
116289692
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
211 KB
Volume
327
Category
Article
ISSN
0006-291X

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Chronic progressive external ophthalmopl
✍ Thomas GrΓΌnewald; Hildburg Porschke; Hans Goebel; Heinz Reichmann; Peter Seibel πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 576 KB

Large-scale deletions and point mutations of the mitochondrial DNA are generally accepted as being involved in the pathogenesis of diseases associated with mitochondrial encephalomyopathies such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO). We screened suspected p