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A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

✍ Scribed by S.K.N. Marie; Y. Goto; M.R. Passosbueno; M. Zatz; A.A.S. Carvalho; M. Carvalho; J.A. Levy; V.B. Palou; S. Campiotto; S. Horai; I. Nonaka


Book ID
112237994
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
291 KB
Volume
52
Category
Article
ISSN
0885-4505

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A specific point mutation in the mitocho
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The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) exhibits a specific heteroplasmic A----G transition in the tRNA(Leu) at position 3243. In this study, we investigated mtDNA from