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Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA)

✍ Scribed by Leslie Richter; Pamela Flodman; Fernando Barria von-Bischhoffshausen; Douglas Burch; Sandra Brown; Linda Nguyen; Julia Turner; M. Anne Spence; J. Bronwyn Bateman

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 315 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32236

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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