Clinical and genetic study of Friedreich ataxia in an Australian population.

Abstract

Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have mutations in FRDA, 78 are homozygous for an expanded GAA repeat… (More)

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Cite this paper

@article{Delatycki1999ClinicalAG, title={Clinical and genetic study of Friedreich ataxia in an Australian population.}, author={Martin B. Delatycki and Daniel Paris and R J McK Gardner and Garth A. Nicholson and Najah Therese Nassif and Elsdon Storey and Jennifer C Macmillan and Veronica Rose Collins and R. Anthony Williamson and Sharon M. Forrest}, journal={American journal of medical genetics}, year={1999}, volume={87 2}, pages={168-74} }