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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3. Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy;Genes;2022-07-05
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5. Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants;PLOS ONE;2021-07-09
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