Neuromuscular forms of glycogen branching enzyme deficiency

Claudio Bruno, D. Cassandrini, S. Assereto, H. Orhan Akman, C. Minetti, S. Di Mauro

Research output: Contribution to journalArticlepeer-review

Abstract

Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also known as polyglucosan, in almost all tissues. Its clinical presentation is variable and involves the liver or the neuromuscular system and different mutations in the GBE1 gene, located on chromosome 3, have been identified in both phenotypes. This review will addresses the neuromuscular clinical variants, focusing on the molecular genetics aspects of this disorder.

Original languageEnglish
Pages (from-to)75-78
Number of pages4
JournalActa Myologica
Volume26
Issue number1
Publication statusPublished - Jul 2007

Keywords

  • Branching enzyme
  • GBE1 gene
  • Glycogen storage disease
  • Metabolic myopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology

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