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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 (DOID:0111519)
Alliance: disease page
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
Alt IDs: OMIM:615156, ORDO:352470
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory