Genotype-phenotype correlation in Pompe disease, a step forward.

In our study when comparing groups of patients with the same GAA genotypes (see results and Table 1 for details) for disease-free life (Figure 1 ) we observed a highly significant difference (p = 0.000163) for the c.-32-13T > G/c.1927G > A genotype, which showed an earlier age of onset, at any age, compared to other genotypes.

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