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Retinal Dystrophy in a Japanese Boy Harboring the Mitochondrial DNA T8993G Mutation

✍ Scribed by Tetsuya Yamada; Seiji Hayasaka; Kazuhisa Hongo; Hiromichi Kubota


Book ID
114044389
Publisher
Springer
Year
2002
Tongue
English
Weight
487 KB
Volume
46
Category
Article
ISSN
0021-5155

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We retrospectively analyzed the clinical, histological, and biochemical data of 11 children, five of which carried the maternally-inherited mitochondrial T8993C and six carrying the T8993G point mutations in the ATP synthase 6 gene. The percentage of heteroplasmy was 95% or higher in muscle and in b