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A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations

✍ Scribed by Riccardo G. Borroni; Nupoor Narula; Marta Diegoli; Maurizia Grasso; Monica Concardi; Renato Rosso; Alessandra Cerica; Valeria Brazzelli; Eloisa Arbustini

Book ID: 111244972
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 444 KB
Volume: 20
Category: Article
ISSN: 0906-6705
DOI: 10.1111/j.1600-0625.2011.01387.x

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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