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A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome

✍ Scribed by Yutaka Nishigaki; Saba Tadesse; Eduardo Bonilla; Dikoma Shungu; Stephen Hersh; Bronya J.B Keats; Charles I Berlin; Morton F Goldberg; Jerry Vockley; Salvatore DiMauro; Michio Hirano


Book ID
117669722
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
409 KB
Volume
13
Category
Article
ISSN
0960-8966

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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