Table 1 Types of mutations in Pompe disease [31]

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

–