Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

  • Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963.
Johanna Nilsson  1 ,  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
Affiliations
  • 1. Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
PMID: 23798481 DOI: 10.1002/ana.23963
Abstract

Glycogen storage diseases are important causes of myopathy and Cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive Cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin Ligase, 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.