Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family

Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family. F.M. Branco Germiniani, A. Moro, R. Munhoz, W.O. Arruda, S. Raskin, A. Martinez, H.A.G. Teive; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e113. http://dx.doi.org/10.1016/j.jns.2013.07.381

KEYWORDS: progressive ataxia, dysarthria, dysphagia, generalized ataxia, dysmetria, loss of deep tendon reflexes, MRI, cardiomyopathy, expanded alleles, pseudodominant inheritance, intra-familial clinical polymorphism.