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Unusual presentation and clinical variability in Belgian pedigrees with progressive external ophthalmoplegia and multiple deletions of mitochondrial DNA

✍ Scribed by G. Van Goethem; J.-J. Martin; A. Löfgren; I. Dehaene; P. Tack; M. Van Zandycke; D. Ververken; C. Ceuterick; C. Van Broeckhoven


Book ID
111063952
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
823 KB
Volume
4
Category
Article
ISSN
1351-5101

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Chronic progressive external ophthalmopl
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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