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2. Genotype–phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA.

Author

Vives-Bauza, C., Del Toro, M., Solano, A., Montoya, J., Andreu, A., and Roig, M.

Abstract

The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and ‘extremely thin appearance’. We report a second patient with the same mutation and phenotype. [ABSTRACT FROM AUTHOR]

Published
2003
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