Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Ann Neurol. 2013 Dec;74(6):914-9. 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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

Supplementary concepts

  • Polyglucosan Body Disease, Adult Form