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Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

โœ Scribed by Sean R. Regner; Sarah J. Lagedrost; Ted Plappert; Erin K. Paulsen; Lisa S. Friedman; Madeline L. Snyder; Susan L. Perlman; Katherine D. Mathews; George R. Wilmot; Kimberly A. Schadt; Martin St. John Sutton; David R. Lynch

Book ID
113448616
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
243 KB
Volume
109
Category
Article
ISSN
0002-9149

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## Abstract Friedreich ataxia is an inherited, progressive, neurodegenerative disorder that is clinically heterogeneous. It is caused by a trinucleotide (GAA) repeat expansion resulting in frataxin loss and oxidative stress. We assessed clinical features including the development of cardiomyopathy