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
收藏
页码：507 / 508
页数：2
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