线粒体DNA
表型
突变
遗传学
基因
生物
基因型-表型区分
基因型
人类遗传学
外眼肌麻痹
慢性进行性外眼肌麻痹
DNA
基因突变
线粒体肌病
作者
Cristofol Vives-Bauza,M. del Toro,Abelardo Solano,Julio Montoya,Antonio L. Andreu,Manuel Roig
标识
DOI:10.1023/a:1025133629685
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.
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