Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Johanna Nilsson, Benedikt Schoser, Pascal Laforet, Ognian Kalev, Christopher Lindberg, Norma B. Romero, Marcela Dávila Lõpez, Hasan O. Akman, Karim Wahbi, Stephan Iglseder, Christian Eggers, Andrew G. Engel, Salvatore Dimauro, Anders Oldfors

Research output: Contribution to journalArticlepeer-review

75 Scopus citations

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. Ann Neurol 2013;74:914-919

Original languageEnglish (US)
Pages (from-to)914-919
Number of pages6
JournalAnnals of neurology
Volume74
Issue number6
DOIs
StatePublished - Dec 2013

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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