A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
β Scribed by Marcus Deschauer; Reinhard Kiefer; Emma L. Blakely; Langping He; Stephan Zierz; Douglass M. Turnbull; Robert W. Taylor
- Book ID
- 117669756
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 162 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0960-8966
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Parkinson's disease (PD) or other types of movement disorders occur worldwide in all ethnic groups and socioeconomic classes. 1,2 Because of the chronic and debilitating symptoms of PD or other types of movement disorders patients often use complementary medicine. [3][4][5] One such treatment option
## Abstract Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder caused by mutations in nuclear genes. Here we report the clinical and genetic features of adPEO in a Chinese family. All patients had gradual onset of ptosis, with or without ophthalmoplegia, aro