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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-12-01
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Series: | Diagnostics |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-4418/12/12/3135 |