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A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

✍ Scribed by Daniela Galimberti; Chiara Villa; Laura Ghezzi; Anna Pietroboni; Chiara Fenoglio; Francesca Cortini; Maria Serpente; Claudia Cantoni; Elisa Ridolfi; Alessandra Marcone; Luisa Benussi; Roberta Ghidoni; Francesca Jacini; Andrea Arighi; Giorgio Fumagalli; Alessandra Mandelli; Giuliano Binetti; Stefano Cappa; Nereo Bresolin; Elio Scarpini

Book ID
118467431
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
57 KB
Volume
7
Category
Article
ISSN
1552-5260

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Clinical phenotype of autosomal dominant
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene
✍ 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