Article
A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.
Molecular vision - 25 Aug 2010
Yan Naihong, Cai Shuping, Guo Bo, Mou Yi, Zhu Jing, Chen Jun, Zhang Ting, Li Ronghua, Liu Xuyang
Abstract excerpt
PURPOSE: To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister. METHODS: The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a...
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