Progressive external ophthalmoplegia, autosomal dominant, type 3
Autosomal dominant Progressiveexternal ophthalmoplegiawith 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 Progressiveexternal ophthalmoplegiamay have other Clinical features including proximal Muscle weakness, ataxia, peripheral Neuropathy, cardiomyopathy, cataracts, depression, and Endocrine abnormalities. Progressiveexternal ophthalmoplegiacaused 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.
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