Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
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Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Neurology. 2005 Jan 25;64(2):368-70.
- PubMed ID
- 15668445 [ View in PubMed]
- Abstract
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 mutations (Ala237Val and Gly293Arg) in the acid alpha-glucosidase gene in this patient.