Term Name: | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
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Synonyms: | autosomal dominant progressive external ophthalmoplegia 6, DNA2-related mitochondrial DNA deletion syndrome, mitochondrial DNA deletion syndrome with limb-girdle weakness, mitochondrial DNA deletion syndrome with progressive myopathy, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy, PEOA6 |
Definition: | 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 the DNA2 gene on chromosome 10q21.3. |
Ontology: | Human Disease [DOID:0111519] ( DOID:0111519 ) |