Hypertrophic cardiomyopathy in Friedreich's ataxia.
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.
Fayssoil
A
A
Nardi
O
O
Orlikowski
D
D
Annane
D
D
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000175:diagnosis*; D005621:Friedreich Ataxia / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male