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Article

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

American journal of medical genetics. Part A - 1 Sept 2003

Pittis Maria Gabriela, Montalvo Anna Lisa E, Miocic Snjezana, Martini Cristina, Deganuto Marta, Candusso Manila, Ciana Giovanni, Bembi Bruno

Abstract excerpt

Glycogen storage disease type II (GSDII) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme acid alpha glucosidase. Four novel mutations (C670T, G989A, G2188T, and Delta 23 nt 828-850) were identified in five Italian patients with the infantile form of the disease. The C670T mutation was present in two unrelated patients in heterozygosity; the effect on enzyme activity was assessed...

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PMID: 12923862
DOI: 10.1002/ajmg.a.20164

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

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Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.PMID 12923862Read ↗

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