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Article

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

JAMA neurology - 1 Apr 2015

Akman H Orhan, Kakhlon Or, Coku Jorida, Peverelli Lorenzo, Rosenmann Hanna, Rozenstein-Tsalkovich Lea, Turnbull Julie, Meiner Vardiella, Chama Liat, Lerer Israela, Shpitzen Shoshi, Leitersdorf Eran, Paradas Carmen, Wallace Mary, Schiffmann Raphael, DiMauro Salvatore, Lossos Alexander, Minassian Berge A

Abstract excerpt

IMPORTANCE: We describe a deep intronic mutation in adult polyglucosan body disease. Similar mechanisms can also explain manifesting heterozygous cases in other inborn metabolic diseases. OBJECTIVE: To explain the genetic change consistently associated with manifesting heterozygous patients with...

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Source

Identifiers

PMID: 25665141
DOI: 10.1001/jamaneurol.2014.4496

Genes

GBE1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25665141-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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