Transmission of the mitochondrial t8993c mutation in a new family
β 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
We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 control