Human genes for mitochondrial DNA depletion syndrome 11
Mitochondrial DNA depletion syndrome 11 [DOID:0080129]
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.
Synonyms: mitochondrial DNA depletion syndrome 11, DOID:0080129, progressive external ophthalmoplegia-myopathy-emaciation syndrome, progressive external ophthalmoplegiamyopathyemaciation syndrome, progressive external ophthalmoplegia-myopathy-emaciation disease ...