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Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)

✍ Scribed by Yuko Hattori; Yu-ichi Goto; Ryoichi Sakuta; Ikuya Nonaka; Yoshikuni Mizuno; Satoshi Horai


Book ID
118932098
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
590 KB
Volume
125
Category
Article
ISSN
0022-510X

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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