Table 3.
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 |