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Article

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.

Neuromuscular disorders : NMD - 1 Mar 2015

Sampaolo Simone, Esposito Teresa, Gianfrancesco Fernando, Napolitano Filomena, Lombardi Luca, Lucà Roberta, Roperto Franco, Di Iorio Giuseppe

Abstract excerpt

We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD). APBD is a rare autosomal recessive disorder characterized by a gradually progressive involvement of both the central and peripheral nervous systems caused by the deficiency of the glycogen branching enzyme (GBE1). The two affected siblings, a...

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Identifiers

PMID: 25544507
DOI: 10.1016/j.nmd.2014.11.006

Genes

GBE1

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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