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Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Human mutation - 1 Jun 2008

Kroos Marian, Pomponio Robert J, van Vliet Laura, Palmer Rachel E, Phipps Michael, Van der Helm Robert, Halley Dicky, Reuser Arnold

Abstract excerpt

Pompe disease was named after the Dutch pathologist Dr JC Pompe who reported about a deceased infant with idiopathic hypertrophy of the heart. The clinical findings were failure to thrive, generalized muscle weakness and cardio-respiratory failure. The key pathologic finding was massive storage of glycogen in heart, skeletal muscle and many other tissues. The disease was classified as glycogen storage disease...

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Source

Identifiers

PMID: 18425781
DOI: 10.1002/humu.20745

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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