Severe vision loss and extreme deafness has been described in very few patients with Friedreich ataxia. Long duration, severe disease and large expanded alleles may account for such an extreme phenotype; nonetheless, the role of factors as modifying genes warrants further investigation in this subset of patients.
Thursday, June 10, 2021
Blindness and Deafness – an Extreme Phenotype in Friedreich Ataxia
Joana Damásio, Ana Sardoeira, Maria Araújo, Isabel Carvalho, Jorge Sequeiros, José Barros; Research Square; 2021. DOI: 10.21203/rs.3.rs-573040/v1.
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