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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Journal article
Authors Johanna Nilsson
Benedikt Schoser
Pascal Laforet
Ognian Kalev
Christopher Lindberg
Norma B Romero
Marcela Davila Lopez
Hasan O Akman
Karim Wahbi
Stephan Iglseder
Christian Eggers
Andrew G Engel
Salvatore DiMauro
Anders Oldfors
Published in Annals of neurology
Volume 74
Issue 6
Pages 914–919
ISSN 1531-8249
Publication year 2013
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Institute of Biomedicine, Department of Pathology
Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Pages 914–919
Language en
Links dx.doi.org/10.1002/ana.23963
Subject categories Clinical Medicine, Cardiac and Cardiovascular Systems, Neurology, Clinical Laboratory Medicine

Abstract

Glycogen storage diseases are important causes of myopathy and cardiomyopathy. 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.

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