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J Inherit Metab Dis. 2003;26(5):507-8.

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

Author information

1
Centre d'Investigacions en Bioquimica i Biologia Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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.

PMID:
14518831
[Indexed for MEDLINE]

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