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

From the Department of Neurology and Friedrich-Baur-Institute (Drs. Anneser, Pongratz, and Schoser), Ludwig-Maximilians-University, Munich; The Institute of Metabolic Genetic Disease (Dr. Podskarbi), Munich; and Children’s Hospital (Dr. Shin), University of Munich, Germany.

Address correspondence and reprint requests to Dr. Johanna M.H. Anneser, Department of Neurology, University of Munich, Klinikum Grosshadern, D-81366 Munich, Germany; e-mail: Johanna.Anneser{at}nro.med.uni-muenchen.de

Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid -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 -glucosidase gene in this patient.

Received April 13, 2004. Accepted in final form September 6, 2004.

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