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Article

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

Molecular biology reports - 1 Sept 2014

Aryani Omid, Manshadi Masoumeh Dehghan, Tondar Mahdi, Khalili Elham, Kamalidehghan Behnam, Ahmadipour Fatemeh, Fani Somayeh, Houshmand Massoud

Abstract excerpt

Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. The infantile-onset type is the most life-threatening form of this disease,...

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Source

Identifiers

PMID: 24976573
DOI: 10.1007/s11033-014-3500-3

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24976573-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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