Term Name: | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
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Synonyms: | adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency, autosomal recessive progressive external ophthalmoplegia 4, PEOB4 |
Definition: | A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. |
Ontology: | Human Disease [DOID:0111516] ( DOID:0111516 ) |