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Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene

✍ Scribed by G. Siciliano; A. Tessa; S. Petrini; M. Mancuso; C. Bruno; G.S. Grieco; A. Malandrini; L. DeFlorio; B. Martini; A. Federico; G. Nappi; F.M. Santorelli; L. Murri


Book ID
117669691
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
237 KB
Volume
13
Category
Article
ISSN
0960-8966

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Clinical phenotype of autosomal dominant
✍ Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 268 KB

## 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