Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

M. P. Lazaropoulos, M. C. Devore, C. Lam, C. Park, S. Bidichandani, and D. R. Lynch, “ Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions,” Annals of Clinical and Translational Neurology 13, no. 10 (2026): 2134–2137, doi:10.1002/acn3.70408. 

 We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study.

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions