Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

Figure 3

DNA sequence electropherograms of the two heterozygous compounds detected in this patient. The c.444C>G (p.Tyr148^∗) mutation is identified in exon 2 and c.2238G>C (p.Trp746Cys) mutation is identified in exon 16 of the GAA gene.

(a)

(b)