Catalog

Progressive external ophthalmoplegia, autosomal dominant, type 2

No MMS code

Link to WHO Definition

Progressive external ophthalmoplegia, autosomal dominant, type 2 – http://id.who.int/icd/entity/446775180

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOA2) is caused by heterozygous mutation in the nuclear-encoded ANT1 gene (SLC25A4; 103220) on chromosome 4q35. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Progressive external ophthalmoplegia caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes.