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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

✍ Scribed by Ali-Reza Moslemi; Dr Anders Oldfors; Atle Melberg; Elisabeth Holme

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
754 KB
Volume
40
Category
Article
ISSN
0364-5134

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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