Kw 0935
cv_term_accession
KW-0935
canonical
uniprot_keyword
KW-0935
canonical
name
Progressive external ophthalmoplegia
uniprot
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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords