Keyword
Progressive external ophthalmoplegia
| Definition | Protein which, if defective, causes progressive external ophthalmoplegia with mitochondrial DNA deletions. Progressive external ophthalmoplegia (PEO) is characterized by ptosis and weakness of the extraocular muscles. Typical symptoms are ophthalmoparesis and exercise intolerance. Some people also may develop cardiomyopathy, cataracts, ataxia, peripheral neuropathy, hypogonadism or major depression. The diagnosis depends on the demonstration, by Southern blotting, of multiple deletions of mtDNA in muscle biopsy specimens. Both autosomal dominant and autosomal recessive inheritance can occur. The autosomal recessive form, which is often associated with multisystemic disorders, is clinically more heterogenous than the autosomal dominant form and can be more severe. |
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| Category |
› Disease
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