OBO ID: DOID:0111519 |
Term Name: | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111519 ) |
OTHER autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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