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Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

✍ Scribed by R. Virgilio; D. Ronchi; G. M. Hadjigeorgiou; A. Bordoni; F. Saladino; M. Moggio; L. Adobbati; D. Kafetsouli; E. Tsironi; S. Previtali; A. Papadimitriou; N. Bresolin; G. P. Comi

Publisher
Springer
Year
2008
Tongue
English
Weight
473 KB
Volume
255
Category
Article
ISSN
0340-5354

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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