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Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

✍ Scribed by E. Cardaioli; P. Da Pozzo; E. Malfatti; G.N. Gallus; A. Rubegni; A. Malandrini; C. Gaudiano; L. Guidi; G. Serni; G. Berti; M.T. Dotti; A. Federico

Book ID
119302710
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
372 KB
Volume
272
Category
Article
ISSN
0022-510X

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πŸ“œ SIMILAR VOLUMES

Chronic progressive external ophthalmopl
Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNALEU(UUR) gene
✍ 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