Human genes for autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 [DOID:0111519]
A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3.
Synonyms: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6, DOID:0111519, autosomal dominant progressive external ophthalmoplegia 6, DNA2-related mitochondrial DNA deletion syndrome, mitochondrial DNA deletion syndrome with limb-girdle weakness ...