A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant number of cases remain undiagnosed. Here, we describe a family w...

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Detalles Bibliográficos
Autores principales: Baderna, Valentina, Schultz, Joshua, Kearns, Lisa S., Fahey, Michael, Thompson, Bryony A., Ruddle, Jonathan B., Huq, Aamira, Maltecca, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325028/
https://www.ncbi.nlm.nih.gov/pubmed/32600459
http://dx.doi.org/10.1186/s40478-020-00975-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325028/
https://www.ncbi.nlm.nih.gov/pubmed/32600459
http://dx.doi.org/10.1186/s40478-020-00975-w

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