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

Affiliation

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.

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