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GTR Home > Conditions/Phenotypes > Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Synonyms
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3

Summary

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002). [from OMIM]

Available tests

60 tests are in the database for this condition.

Clinical tests (60 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL, TWNK
    Summary: twinkle mtDNA helicase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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