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Article

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Neuromuscular disorders : NMD - 1 Sept 2015

Musumeci Olimpia, Thieme Andrea, Claeys Kristl G, Wenninger Stephan, Kley Rudolf A, Kuhn Marius, Lukacs Zoltan, Deschauer Marcus, Gaeta Michele, Toscano Antonio, Gläser Dieter, Schoser Benedikt

Abstract excerpt

Homozygosity for the common Caucasian splice site mutation c.-32-13T>G in intron 1 of the GAA gene is rather rare in Pompe patients. We report on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase...

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Identifiers

PMID: 26231297
DOI: 10.1016/j.nmd.2015.07.002

Genes

GAA

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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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