Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

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• 作者：Henry Rivera ; Alberto Blá ; zquez ; Juliá ; n Carretero ; José ; C. Alvarez-Cermeñ ; o ; Y. Campos ; Ana Cabello ; Emiliano Gonzalez-Vioque ; Belé ; n Borstein ; Rafael Garesse ; Joaquí ; n Arena
• 关键词：PEO1 ; Twinkle ; adPEO ; Mitochondrial disorders ; mtDNA multiple deletions
• 刊名：Neuromuscular Disorders
• 出版年：2007
• 期刊代码：203_09608966
• 类别：med
• 出版时间：October 2007
• 卷：17
• 期：9-10
• 页码：677-680
• 文件大小：185 K

摘要

Autosomal dominant PEO is associated with mutations in a number of nuclear genes affecting the intergenomic communication with mitochondrial DNA. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel c.1071G > C (p.R357P) mutation in the hot-spot linker region of the twinkle protein.