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Article

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2013

Esmer Carmen, Becerra-Becerra Rosario, Peña-Zepeda Claudia, Bravo-Oro Antonio

Abstract excerpt

Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course. To date, more than 300 mutations have been described; the majority of them are unique to each affected individual....

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Source

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Identifiers

PMID: 24399866
PMCID: PMC3866899

Genes

GAA

Provenance

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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