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.
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Vives-Bauza, C., Del Toro, M., Solano, A. et al. Genotype–phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA. J Inherit Metab Dis 26, 507–508 (2003). https://doi.org/10.1023/A:1025133629685
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DOI: https://doi.org/10.1023/A:1025133629685