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Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy

โœ Scribed by Sara L. Van Driest; Oleksandr Gakh; Steve R. Ommen; Grazia Isaya; Michael J. Ackerman

Book ID
116987645
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
513 KB
Volume
85
Category
Article
ISSN
1096-7192

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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