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Article

Rigid spine syndrome revealing late-onset Pompe disease.

Neuromuscular disorders : NMD - 1 Feb 2010

Laforêt Pascal, Doppler Valérie, Caillaud Catherine, Laloui Kenza, Claeys Kristl G, Richard Pascale, Ferreiro Ana, Eymard Bruno

Abstract excerpt

The authors describe a 50-year-old man who was evaluated for a rigid spine syndrome with onset at age 15, and subsequent walking difficulties. Cardiac and pulmonary functions were normal. Deltoid biopsy revealed the presence of small vacuoles and increased glycogen with Periodic Acid Schiff staining in a limited number of fibers. Acid alpha-glucosidase staining was decreased in leucocytes, and genetic analysis...

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Source

Identifiers

PMID: 20005713
DOI: 10.1016/j.nmd.2009.11.006

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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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