𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)

✍ Scribed by Andres Berardo; Jorida Çoku; Bulent Kurt; Salvatore DiMauro; Michio Hirano


Book ID
116794357
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
774 KB
Volume
20
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Chronic progressive external ophthalmopl
✍ 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