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Hearing evaluation in two sisters with a T8993G point mutation of mitochondrial DNA

โœ Scribed by Yuki Sakai; Kimitaka Kaga; Kazuo Kodama; Asako Higuchi; Junko Miyamoto


Book ID
116563656
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
185 KB
Volume
68
Category
Article
ISSN
0165-5876

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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