Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia

被引：0
|
作者：
Kunqian Ji
Kaiming Liu
Pengfei Lin
Bing Wen
Yue-Bei Luo
Yuying Zhao
Chuanzhu Yan
机构：
[1] Shandong University,Laboratory of Neuromuscular Disorders, Department of Neurology, Qilu Hospital
[2] Shandong University,Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute
来源：
Neurological Sciences | 2014年 / 35卷
关键词：
Autosomal dominant progressive external ophthalmoplegia; PEO; A475P; R354P; Chinese population;
D O I：
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中图分类号：
学科分类号：
摘要：
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset mitochondrial disease caused by mutations in nuclear DNA (nDNA). Twinkle is one of the nuclear genes associated with adPEO. Clinical, histochemical, and molecular genetics findings of 6 patients from two Chinese families with adPEO were reported. Two point mutations (c.1423G>C, p.A475P and c.1061G>C, p.R354P) of Twinkle gene have been found. Multiple mtDNA deletions were also detected in patient’s muscle and fibroblasts. This study confirms two mutations in Chinese adPEO families, which were first reported in the Chinese population.
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页码：443 / 448
页数：5
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