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. 2017 Feb 19;5(2):95–102. doi: 10.1002/mgg3.276

Table 3.

Overview of mutations in GNPTAB, GNPTG, and NAGPA found in stuttering versus those found in mucolipidosis

GNPTAB, GNPTG, and NAGPA mutations
Stuttering Mucolipidosis
Typically heterozygous Homozygous
Typically missense Many null alleles
Modest reduction of enzymatic function Very low to zero enzymatic function
Different sites than mutations in mucolipidosis Different sites than mutations in stuttering