Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia

Alyssa B. Becker, BA Jiang Qian, MD, PhD Benjamin B. Gelman, MD, PhD Michele Yang, MD Peter Bauer, MD Arnulf H. Koeppen, MD; Journal of Neuropathology & Experimental Neurology, Volume 76, Issue 8, 1 August 2017, Pages 665–675, doi:10.1093/jnen/nlx047

The pathologic phenotype in homozygous and compound heterozygous FA is determined by residual frataxin levels rather than unique mutations.

 Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia