“…Mutations in the GNPTAB gene, which encodes the α/β-subunits, are known to be responsible for MLII and MLIIIA [Tiede et al, 2005a and2005b;Kudo et al, 2005;Steet et al, 2005;Paik et al, 2005;Bargal et al, 2006;Tiede et al, 2006;Lam et al, 2007;Otomo et al, 2009]. Mutations in the γ-subunit, encoded by the GNPTG gene (MIM# 607838; chromosome 16p13.3), have been reported to be associated with MLIIIC [Raas-Rothschild et al, 2000Tiede et al, 2004].…”