Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.
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.
D000293:Adolescent; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D012348:RNA, Transfer, Asn / Q000235:genetics*
D004272:DNA, Mitochondrial; D012348:RNA, Transfer, Asn