Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia

Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typic...

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Detalles Bibliográficos
Autores principales: Ziccardi, Lucia, Barbano, Lucilla, Antonelli, Giulio, Cioffi, Ettore, Di Renzo, Antonio, Gioiosa, Valeria, Marcotulli, Christian, Grzybowski, Andrzej, Casali, Carlo, Parisi, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777201/
https://www.ncbi.nlm.nih.gov/pubmed/36553143
http://dx.doi.org/10.3390/diagnostics12123135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777201/
https://www.ncbi.nlm.nih.gov/pubmed/36553143
http://dx.doi.org/10.3390/diagnostics12123135

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