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...

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Detalles Bibliográficos
Autores principales: Harvey, Joshua Paul, Yu-Wai-Man, Patrick, Cheetham, Michael Edward
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
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

Internet

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

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