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- Title
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
- Authors
Ji, Kunqian; Liu, Kaiming; Lin, Pengfei; Wen, Bing; Luo, Yue-Bei; Zhao, Yuying; Yan, Chuanzhu
- Abstract
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.
- Subjects
GENETIC mutation; CHINESE people; CHRONIC progressive external opthalmoplegia; MITOCHONDRIAL pathology; MOLECULAR genetics; POINT mutation (Biology); FIBROBLASTS; DISEASES
- Publication
Neurological Sciences, 2014, Vol 35, Issue 3, p443
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-013-1557-8