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Identification of novel dominant INO2 c mutants with an Opi– phenotype

✍ Scribed by Kyle R. Gardenour; Jamie Levy; John M. Lopes


Book ID
110093437
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
254 KB
Volume
52
Category
Article
ISSN
0950-382X

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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