Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure
✍ Scribed by S. Bohlega; G. Van Goethem; A. Al Semari; A. Löfgren; M. Al Hamed; C. Van Broeckhoven; M. Kambouris
- Book ID
- 116794324
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 404 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0960-8966
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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
Sixteen members of a family with a history of autosomal dominant progressive external ophthalmoplegia (adPEO) with hypogonadism were examined. The muscular involvement commenced cranially and descended in relation to increasing disease duration. The neuromuscular signs were PEO, dysarthria, dysphoni