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  • Title: Hypertrophic cardiomyopathy in Friedreich's ataxia.
    Author: Fayssoil A, Nardi O, Orlikowski D, Annane D.
    Journal: Int J Cardiol; 2008 Jul 21; 127(3):e122-3. PubMed ID: 17659792.
    Abstract:
    Friedreich's ataxia is an autosomal recessive disorder characterized by spinocerebellar degeneration. It is caused by a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9 (9q13). We reported a case of hypertrophic cardiomyopathy associated with Friedreich's ataxia in a twenty year old patient.
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