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A novel mitochondrial tRNAIlepoint mutation in chronic progressive external ophthalmoplegia

✍ Scribed by L. Franceschina; S. Salani; A. Bordoni; M. Sciacco; L. Napoli; G. P. Comi; A. Prelle; F. Fortunato; G. M. Hadjigeorgiou; E. Farina; N. Bresolin; M. G. D’Angelo; G. Scarlato

Publisher
Springer
Year
1998
Tongue
English
Weight
128 KB
Volume
245
Category
Article
ISSN
0340-5354

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Chronic progressive external ophthalmopl
Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNALEU(UUR) gene
✍ Thomas Grünewald; Hildburg Porschke; Hans Goebel; Heinz Reichmann; Peter Seibel 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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