Friday, March 26, 2010

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 Querciaa, Gino R. Somersb, William Hallidayb, Paul F. Kantorc, Brenda Banwelld and Grace Yoona, 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