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PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHON
(OMIM ID: #157640 )

Known also as: PEOA1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM, OCULAR MYOPATHY WITH HYPOGONADISM, MYOPATHY, CATARACT, HYPOGONADISM SYNDROME


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.


DNA repair proteins related with PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHON (#157640 ) disease:
Last modification of this entry: Oct. 11, 2010.

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