Genotype-phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA

被引：16

作者：

Vives-Bauza, C

Del Toro, M

Solano, A

Montoya, J

Andreu, AL

Roig, M

机构：

[1] Hosp Univ Vall Hebron, Seccio Neurol Infantil, Barcelona 08035, Spain

[2] Hosp Univ Vall Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona 08035, Spain

[3] Univ Zaragoza, Dept Bioquim & Biol Mol, E-50009 Zaragoza, Spain

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2003年 / 26卷 / 05期

关键词：

D O I：

10.1023/A:1025133629685

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：507 / 508

页数：2

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Genotype-phenotype correlation in the 5703G&gt;A mutation in the tRNAAsn gene of mitochondrial DNA

Genotype-phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA