Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

@article{Galea2016CompoundHF,
  title={Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia},
  author={C. Galea and A. Huq and P. Lockhart and G. Tai and L. Corben and E. Yiu and L. Gurrin and D. Lynch and S. Gelbard and A. Durr and F. Pousset and Michael H. Parkinson and R. Labrum and P. Giunti and S. Perlman and M. Delatycki and M. Evans-Galea},
  journal={Annals of Neurology},
  year={2016},
  volume={79}
}
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxin expression. Remaining individuals are compound heterozygous for a GAA expansion and a FXN point/insertion/deletion mutation. We examined disease‐causing mutations and the impact on frataxin structure/function and clinical outcome in FRDA. 
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