BACKGROUND:

Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in individuals with FRDA.

Read More: HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia