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Article

Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human mutation - 1 Nov 2021

Niño Monica Y, In't Groen Stijn L M, de Faria Douglas O S, Hoogeveen-Westerveld Marianne, van den Hout Hannerieke J M P, van der Ploeg Ans T, Bergsma Atze J, Pijnappel W W M Pim

Abstract excerpt

Patients with the common c.-32-13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood. Phenotypic variation for other common GAA genotypes remains largely unexplored. Here, we analyzed variation in age at symptom onset for the most common GAA genotypes using the updated and extended Pompe GAA variant database. Patients with the c.2647-7G > A/null...

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Identifiers

PMID: 34405923
DOI: 10.1002/humu.24272
PMCID: PMC9292902

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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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