The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/17/23/3697/1808678/ddn265.pdf
Reference55 articles.
1. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
2. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
3. The epidemiology of pathogenic mitochondrial DNA mutations
4. Prevalence of mitochondrial DNA disease in adults
5. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
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