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The 8,344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinico-pathologic findings

✍ Scribed by Matsuko Ozawa; Yu-Ichi Goto; Ryoichi Sakuta; Yoshinori Tanno; Shoji Tsuji; Ikuya Nonaka


Book ID
116168544
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
471 KB
Volume
5
Category
Article
ISSN
0960-8966

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A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) in the subunit I of the cytochrome oxidase (MT-CO1)