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TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review

✍ Scribed by M.-L. Martin-Negrier; G. Sole; C. Jardel; C. Vital; X. Ferrer; A. Vital


Book ID
111066494
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
263 KB
Volume
18
Category
Article
ISSN
1351-5101

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## 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