The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference5 articles.
1. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy;Delettre;Nat Genet,2000
2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000
3. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy;Shimizu;Am J Ophthalmol,2003
4. Dominant congenital deafness and progressive optic nerve atrophy;Konigsmark;Arch Ophthalmol,1974
5. Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family;Ozden;Ophthalmic Genet,2002
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1. Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy;eLife;2024-08-23
2. Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy;2024-07-30
3. Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management;Progress in Retinal and Eye Research;2024-07
4. The mechanisms of natural products for eye disorders by targeting mitochondrial dysfunction;Frontiers in Pharmacology;2024-04-25
5. Drosophilamodel to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy;2023-03-20
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