Article
Marked variation in the cardiomyopathy associated with Friedreich's ataxia.
Heart (British Cardiac Society) - 1 Feb 1999
Dutka D P, Donnelly J E, Nihoyannopoulos P, Oakley C M, Nunez D J
Abstract excerpt
OBJECTIVE: To document the cardiac phenotype associated with Friedreich's ataxia, a recessively inherited disorder characterised by spinocerebellar degeneration. SETTING: Individuals with Friedreich's ataxia who accepted the invitation to participate in the study. HYPOTHESIS: The cardiomyopathy a...
Topics
- Adolescent
- Adult
- Cardiomegaly
- Echocardiography, Doppler
- Electrocardiography
- Female
- Friedreich Ataxia
- Humans
- Iron-Binding Proteins
- Male
- Middle Aged
- Myocardium
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor)
- Prospective Studies
- Trinucleotide Repeats
- Frataxin