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Article

Neuromuscular forms of glycogen branching enzyme deficiency.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jul 2007

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

Abstract excerpt

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,...

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Identifiers

PMID: 17915577
PMCID: PMC2949312

Genes

GBE1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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