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Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

✍ Scribed by A. Schaller; R. Desetty; D. Hahn; C.B. Jackson; J.-M. Nuoffer; S. Gallati; L. Levinger


Book ID
108211120
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
933 KB
Volume
11
Category
Article
ISSN
1567-7249

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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