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A Novel Mitochondrial DNA Point Mutation in the tRNAIleGene: Studies in a Patient Presenting with Chronic Progressive External Ophthalmoplegia and Multiple Sclerosis

✍ Scribed by Robert W. Taylor; Patrick F. Chinnery; Matthew J.D. Bates; Margaret J. Jackson; Margaret A. Johnson; Richard M. Andrews; Douglass M. Turnbull


Book ID
115581528
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
204 KB
Volume
243
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