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The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications

Friedreich's Ataxia is the most common inherited ataxia in man. It is a mitochondrial disease caused by severely reduced expression of the iron binding protein, frataxin. A large GAA triplet expansion in the human FRDA gene encoding this protein inhibits expression of this gene. It is inherited in an autosomal recessive pattern and typically diagnosed in childhood.

The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications

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