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| Hereditary Neuropathy v2.7 | TOP3A |
Sangavi Sivagnanasundram gene: TOP3A was added gene: TOP3A was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 37013609; 29290614; 36544354 Phenotypes for gene: TOP3A were set to progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MONDO:0020845 Review for gene: TOP3A was set to GREEN Added comment: >4 unrelated individuals reported with biallelic TOP3A variants presenting with adult‑onset mitochondrial disease characterised by progressive external ophthalmoplegia, ptosis, myopathy, cardiomyopathy and axonal sensory‑motor neuropathy. Sources: Literature |
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