This study has been completed. The objective of the project was to confirm the clinical diagnosis of Friedreich ataxia in 49 patients attending the Muscular Dystrophy Association Clinic, who have carried the clinical diagnosis of Friedreich ataxia. Diagnostic confirmation was done by identifying the presence of a trinucleotide (GAA) expansion in intron 1 of the Frataxin gene (the gene responsible for Friedreich ataxia). Patients with genotypic conformation of the diagnosis of Friedreich ataxia were then recruited for the iron chelation study.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000064-36
Application #
6406953
Study Section
General Clinical Research Centers Committee (CLR)
Project Start
1977-12-01
Project End
2001-02-28
Budget Start
Budget End
Support Year
36
Fiscal Year
2000
Total Cost
Indirect Cost
Name
University of Utah
Department
Type
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112
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