This report contains information about diseases included within the OMIM phenotypic series "progressive external ophthalmoplegia with mtDNA deletions". A subset of these can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Nov. 2016 by FlyBase; FBrf0222196]
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. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003, pubmed:12975295; Luoma et al., 2004, pubmed:15351195) [from MIM:157640; 2019.02.19]
Muscle cells frequently contain an excess of mitochondria that accumulate in clumps described as ragged-red fibers (when stained). [from Genetics Home Reference, progressive external ophthalmoplegia; 2016.11.23]
