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ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
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Accession:DOID:9006756 term browser browse the term
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Definition: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. Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-1 (PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG) on chromosome 15q25. (OMIM)
Synonyms:exact_synonym: PEOA1;   PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1;   PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
 alt_id: RDO:0012798
 replaced_by: DOID:0111521
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