Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report

Figure 1 Acid α-glucosidase gene sequencing results. A: The fourth intron c.859-2A>T heterozygous mutation carried by the proband; B: The father of the proband c.859-2A>T locus no abnormality; C: The proband c.859-2A>T heterozygous mutation carried by the mother of the proband; D: c.1861T>G heterozygous mutation in the fifth exon carried by the proband; E: c.1861T>G heterozygous mutation carried by the father of the proband Synthetic mutation; F: There is no abnormality at c.1861T>G of the mother of the proband. The arrow indicates the mutation site.

Figure 2  A molecular diagnosis and the asymptomatic parents.