2020
DOI: 10.4322/acr.2020.204
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Cardiomyopathy as the first manifestation of Friedreich s ataxia

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“…The exact role of frataxin in the development of FRDA is not known, and it is hypothesized that a deficiency of this protein causes cellular oxidative stress and iron storage in the heart, in a multifocal manner and, in some cases, the liver and spleen. Although frataxin deficiency is reported in several different tissues, its surplus in the heart is not yet well understood, but it may be related to mitochondrial dysfunction and the generation of oxidative stress in cardiomyocytes [ 14 ].…”
Section: Resultsmentioning
confidence: 99%
“…The exact role of frataxin in the development of FRDA is not known, and it is hypothesized that a deficiency of this protein causes cellular oxidative stress and iron storage in the heart, in a multifocal manner and, in some cases, the liver and spleen. Although frataxin deficiency is reported in several different tissues, its surplus in the heart is not yet well understood, but it may be related to mitochondrial dysfunction and the generation of oxidative stress in cardiomyocytes [ 14 ].…”
Section: Resultsmentioning
confidence: 99%