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A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

✍ Scribed by Joachim Wolf; Bert Obermaier-Kusser; Martina Jacobs; Cornelia Milles; Mario Mörl; Harald D. von Pein; Armin J. Grau; Matthias F. Bauer


Book ID
119304412
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
275 KB
Volume
316
Category
Article
ISSN
0022-510X

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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