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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 periphe...

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Source

Identifiers

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

Genes

GBE1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25544507-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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