Article
Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study.
Archives of cardiovascular diseases - 1 Jan 2022
Legrand Lise, Weinsaft Jonathan W, Pousset Francoise, Ewenczyk Claire, Charles Perrine, Hatem Stéphane, Heinzmann Anna, Biet Marie, Durr Alexandra, Redheuil Alban
Abstract excerpt
BACKGROUND: Friedreich's ataxia is an autosomal recessive mitochondrial disease caused by a triplet repeat expansion in the frataxin gene (FXN), exhibiting cerebellar sensory ataxia, diabetes and cardiomyopathy. Cardiac complications are the major cause of early death. AIMS: To characterize the cardiac phenotype associated with Friedreich's ataxia, and to assess the evolution of the associated cardiopathy over 1...
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