Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling

Neuromuscular Disorders
Article in Press, Corrected Proof,  doi:10.1016/j.nmd.2010.02.019

Nada Quercia^a, Gino R. Somers^b, William Halliday^b, Paul F. Kantor^c, Brenda Banwell^d and Grace Yoon^{a, d,}

^a Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Canada
^b Department of Paediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Canada
^c Department of Paediatrics, Division of Cardiology, Hospital for Sick Children, Canada
^d Department of Paediatrics, Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, Canada

Received 5 November 2009; 

revised 22 January 2010; 

accepted 23 February 2010. 

Available online 24 March 2010. 

 

Keywords: Friedreich ataxia; Cardiomyopathy; Frataxin; Sudden death