autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (DOID:0111515)
Alliance: disease page
Synonyms: adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; adult-onset CPEO with mitochondrial myopathy; autosomal recessive progressive external ophthalmoplegia 2; PEOB2
Alt IDs: OMIM:616479, ORDO:329336
Definition: A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.