New publication from ICGNMD's Stephanie Efthymiou, Henry Houlden and others

ICGNMD's Stephanie Efthymiou, Henry Houlden and others have published this open access paper, identifying pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

https://onlinelibrary.wiley.com/doi/10.1002/acn3.51874