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A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

✍ Scribed by Henna Tyynismaa; Emil Ylikallio; Mehul Patel; Maria J. Molnar; Ronald G. Haller; Anu Suomalainen


Book ID
113422674
Publisher
American Society of Human Genetics
Year
2009
Tongue
English
Weight
472 KB
Volume
85
Category
Article
ISSN
0002-9297

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Clinical phenotype of autosomal dominant
✍ Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 268 KB

## 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