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Transmission of the mitochondrial t8993c mutation in a new family

✍ Scribed by Hurvitz, Haggit ;Naveh, Yaron ;Shoseyov, David ;Klar, Aharon ;Shaag, Avraham ;Elpeleg, Orly


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
44 KB
Volume
111
Category
Article
ISSN
0148-7299

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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

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