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A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

✍ Scribed by Marcus Deschauer; Gavin Hudson; Tobias Müller; Robert W. Taylor; Patrick F. Chinnery; Stephan Zierz


Book ID
116792284
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
299 KB
Volume
15
Category
Article
ISSN
0960-8966

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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