Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschmann, Parkinsonism & Related Disorders, Available online 26 April 2014, ISSN 1353-8020, http://dx.doi.org/10.1016/j.parkreldis.2014.04.018.

Keywords: Friedreich Ataxia; Point Mutation; Disease Progression; Hemochromatosis; Genetic Counseling