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Table 1 Types of mutations in Pompe disease [31]

From: Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

Type of mutation Effect Exceptions
Nonsense, frameshift, multiple exon deletion mutations Two alleles: CRIM negative -Premature termination codon in the last exon or up to above 50 nucleotides from the 3′ end of the penultimate exon
- In frame deletion
Missense mutation At least one: CRIM positive Point mutation that abolished the initiator methionine codon
Splicing mutation (about 15%) Difficult to predict
  1. CRIM Cross-reactive immunologic material