Mutation analysis of GAA gene. A to C Results of sequencing analysis and detection of mutations in exon 2 (c.118C > T [p.R40X]), intron 18 (c.2647-7G > A [p.N882fs]) and exon 16 (c.2276 G > C [p.G759A]). Arrowheads mark the site of base alternations. The sequences of an unaffected sample and an affected subject from the Pompe-affected family are reported. The coding triplets and corresponding amino acids decided according to GAA cDNA are indicated. D Evolutionary conservation of the glycine residue at position 759 was indicated with an arrow.