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A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

✍ Scribed by Tomàs Pinós; Mario Marotta; Eduard Gallardo; Isabel Illa; Jorge Díaz-Manera; Emiliano Gonzalez-Vioque; Elena García-Arumí; Antoni L. Andreu; Ramon Martí


Book ID
108211106
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
773 KB
Volume
11
Category
Article
ISSN
1567-7249

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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