DO_rare_slim has material basis in has symptom autosomal recessive disease mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 11 A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. MIM:615084 disease_ontology ORDO:352447 DOID:0080129 progressive external ophthalmoplegia-myopathy-emaciation syndrome autosomal recessive inheritance muscle weakness