Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

We describe ten patients from eight families with childhood or juvenile onset of myopathy, eight of whom also had rapidly progressive cardiomyopathy requiring heart transplant in four. The patients were homozygous or compound heterozygous for missense or truncating mutations in the ubiquitin ligase RBCK1 and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. ANN NEUROL 2013. © 2013 American Neurological Association

Source: Annals of Neurology - June 24, 2013 Category: Neurology Authors: Johanna Nilsson, Benedikt Schoser, Pascal Laforet, Ognian Kalev, Christopher Lindberg, Norma B. Romero, Marcela Dávila López, Hasan O. Akman, Karim Wahbi, Stephan Iglseder, Christian Eggers, Andrew G. Engel, Salvatore DiMauro, Anders Oldfors Tags: Brief Communication Source Type: research