autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

Term ID

DOID:0111519

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. https://www.ncbi.nlm.nih.gov/pubmed/23352259

References

• MIM:615156
• ORDO:352470

Ontology

Human Disease   ( DOID:0111519 )