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Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle

✍ Scribed by B. W. Smits; F. A. Hol; L. P. van den Heuvel; G. Drost; R. J. T. Rodenburg; H. J. ter Laak; B. G. M. van Engelen


Publisher
Springer
Year
2007
Tongue
English
Weight
306 KB
Volume
254
Category
Article
ISSN
0340-5354

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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