Catalog

Progressive external ophthalmoplegia, autosomal dominant, type 3

No MMS code

Link to WHO Definition

Progressive external ophthalmoplegia, autosomal dominant, type 3 – http://id.who.int/icd/entity/1750994167

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-3 (PEOA3) is caused by heterozygous mutation in the nuclear-encoded twinkle gene (C10ORF2; 606075) on chromosome 10q24.The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked autosomal dominant progressive external ophthalmoplegia may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities. progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes.