Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Titel:
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Auteur:
Musumeci, Olimpia Thieme, Andrea Claeys, Kristl G. Wenninger, Stephan Kley, Rudolf A. Kuhn, Marius Lukacs, Zoltan Deschauer, Marcus Gaeta, Michele Toscano, Antonio Gläser, Dieter Schoser, Benedikt