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Article

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Neuromuscular disorders : NMD - 1 Apr 2004

Tay Stacey K H, Akman Hasan O, Chung Wendy K, Pike Michael G, Muntoni Francesco, Hays Arthur P, Shanske Sara, Valberg Stephanie J, Mickelson James R, Tanji Kurenai, DiMauro Salvatore

Abstract excerpt

Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching enzyme. Typically, glycogen storage disease type IV presents with rapidly progressive liver cirrhosis and death in childhood. Variants include a cardiopathic form of childhood, a relatively benign myopathic form of young adults, and a late-onset neurodegenerative disorder (adult...

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Source

Identifiers

PMID: 15019703
DOI: 10.1016/j.nmd.2003.12.006

Genes

GBE1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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