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Article

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Genes - 28 Jan 2020

Aung-Htut May T, Ham Kristin A, Tchan Michel C, Fletcher Sue, Wilton Steve D

Abstract excerpt

Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α-1,4-glucosidase enzyme (GAA). The severity of disease and observed time of onset is subject to the various combinations of heterozygous GAA alleles. Here we have characterized two novel mutations: c.2074C>T and c.1910_1918del, and a previously reported c.1082C>G mutation...

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Identifiers

PMID: 32012848
DOI: 10.3390/genes11020135
PMCID: PMC7073677

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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