Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Keyword - Progressive external ophthalmoplegia (KW-0935)

Keywords navigation

Broader

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.

Category

Disease

Graphical

Progressive external ophthalmoplegiaPrimary mitochondrial diseaseDisease
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again