Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Olimpia Musumeci, Andrea Thieme, Kristl G. Claeys, Stephan Wenninger, Rudolf A. Kley, Marius Kuhn, Zoltan Lukacs, Marcus Deschauer, Michele Gaeta, Antonio Toscano, Dieter Gläser, Benedikt Schoser

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Biochemistry, Genetics and Molecular Biology