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Article

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

Neurology - 25 Jan 2005

Anneser J M H, Pongratz D E, Podskarbi T, Shin Y S, Schoser B G H

Abstract excerpt

Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). The disease is autosomal recessive inherited and is clinically and genetically heterogenous. The authors describe a 30-year-old woman affected by late-onset Pompe disease with vascular affection resembling atherosclerotic angiopathy of the elderly. Genetic analysis revealed two novel...

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Identifiers

PMID: 15668445
DOI: 10.1212/01.WNL.0000149528.95362.20

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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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