Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1

Common Name(s)

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1

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 ({3:Filosto et al., 2003}; {9:Luoma et al., 2004}). PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes ({5:Lamantea et al., 2002}). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA Deletions See also PEOA2 ({609283}), caused by mutation in the ANT1 gene (SLC25A4; {103220}) on chromosome 4q34; PEOA3 ({609286}), caused by mutation in the twinkle gene (C10ORF2; {606075}) on chromosome 10q24; PEOA4 ({610131}), caused by mutation in the POLG2 gene ({604983}) on chromosome 17q; PEOA5 ({613077}), caused by mutation in the RRM2B gene ({604712}) on chromosome 8q23; and PEOA6 ({615156}), caused by mutation in the DNA2 gene ({601810}) on chromosome 10q.
 

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Condition Specific Organizations

Following organizations serve the condition "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1" for support, advocacy or research.

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Scientific Literature

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