Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

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.

• 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
• Journal: Annals of neurology (Ann Neurol) Vol. 74 Issue 6 Pg. 914-9 (Dec 2013) ISSN: 1531-8249 [Electronic] United States
• PMID: 23798481 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 American Neurological Association.

Chemical References

• Transcription Factors
• Ubiquitin
• RBCK1 protein, human
• Ubiquitin-Protein Ligases

Topics

• Adolescent
• Adult
• Cardiomyopathies (enzymology, etiology, genetics)
• Female
• Genome, Human
• Glycogen Storage Disease (complications, enzymology, genetics)
• Humans
• Male
• Middle Aged
• Muscle Weakness (enzymology, etiology, genetics)
• Muscular Diseases (enzymology, etiology, genetics)
• Mutation, Missense (genetics)
• Nervous System Diseases (complications, enzymology, genetics)
• Transcription Factors (deficiency)
• Ubiquitin (genetics)
• Ubiquitin-Protein Ligases
• Young Adult