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Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy that results in progressive, bilateral visual acuity loss and field defects. OPA1 is the causative gene in around 60% of cases of DOA. The majority of patients have a pure ocular phenotype, but 20% have extra-ocular features (DO...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer International Publishing
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259687/ https://www.ncbi.nlm.nih.gov/pubmed/35534703 http://dx.doi.org/10.1038/s41431-022-01102-0 |