autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (DOID:0111516)
Alliance: disease page
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
Alt IDs: OMIM:617070, ORDO:329314
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.