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Prevalence and spectrum of thin filament mutations in patients with hypertrophic cardiomyopathy: A comprehensive mutational analysis of troponin T, troponin I, alpha tropomyosin, and cardiac actin

✍ Scribed by Sara L. Van Driest; Erik G. Ellsworth; Melissa L. Will; Bernard J. Gersh; Steve R. Ommen; Michael J. Ackerman


Book ID
119546370
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
197 KB
Volume
41
Category
Article
ISSN
1558-3597

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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