Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Common Name(s)

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

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. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ({3:Filosto et al., 2003}; {10:Luoma et al., 2004}). PEO 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 ({9:Lamantea et al., 2002}). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 ({157640}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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