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Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNAAsn Gene

✍ Scribed by P. Seibel; J. Lauber; T. Klopstock; C. Marsac; B. Kadenbach; H. Reichmann

Book ID
115575511
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
480 KB
Volume
204
Category
Article
ISSN
0006-291X

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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