Recently several mutations have been identified in nuclear genes that predispose to autosomal dominant or recessive progressive external ophthalmoplegia (PEO) with multiple deletions of mitochondrial DNA (mtDNA). In autosomal dominant PEO (adPEO, MIM# 157640), mutations were reported in the genes AN
✦ LIBER ✦
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients
✍ Scribed by Barton R. Brandon, Nico J. Diederich, Madhu Soni, Katrin Witte…
- Book ID
- 120898620
- Publisher
- Springer
- Year
- 2013
- Tongue
- English
- Weight
- 240 KB
- Volume
- 260
- Category
- Article
- ISSN
- 0340-5354
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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
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