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

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

  • Neurology. 2005 Jan 25;64(2):368-70. doi: 10.1212/01.WNL.0000149528.95362.20.
J M H Anneser 1,  D E Pongratz,  T Podskarbi,  Y S Shin,  B G H Schoser
Affiliations

Affiliation

  • 1 Department of Neurology and Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany. Johanna.Anneser@nro.med.uni-muenchen.de
PMID: 15668445 DOI: 10.1212/01.WNL.0000149528.95362.20
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.

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