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Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.

Neuropediatrics - 1 Dec 2021

Tokatly Latzer Itay, Sagi Liora, Bali Deeksha Sarihyan, Rehder Catherine, Orbach Rotem, Fattal-Valevski Aviva

Abstract excerpt

Pompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the GAA gene. It manifests as a broad spectrum of clinical phenotypes with progressive weakness that impairs motor and respiratory functions being common for all its forms. Cardiac hypertrophy is a prominent feature of its classic infantile form. To date, the pathogenic variant c.2015G > A (p.Arg672Gln) in...

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PMID: 33578445
DOI: 10.1055/s-0040-1722680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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