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Structural and Functional Characterization of Cardiac Troponin T Mutations in the TNT1 Domain That Cause Familial Hypertrophic Cardiomyopathy

✍ Scribed by Guinto, Pia J.; Manning, Edward P.; Moore, Rachel K.; Schwartz, Steven D.; Tardiff, Jil C.


Book ID
122151023
Publisher
Biophysical Society
Year
2009
Tongue
English
Weight
40 KB
Volume
96
Category
Article
ISSN
0006-3495

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Friedreich Ataxia (FA) is a neurodegenerative disorder characterised by progressive gait disturbance, dysarthria, dysmetria and other coordination disorders. The genetic defect is represented by an expansion of GAA repeats in the frataxin gene (FRDA or X25). Hypertrophic cardiomyopathy is a common f