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Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions

✍ Scribed by Ian Trounce; Edward Byrne; Sangkot Marzuki; Xenia Dennett; Herawati Sudoyo; Frank Mastaglia; Samuel F. Berkovic


Book ID
118931187
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
979 KB
Volume
102
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