Broad Spectrum of c.2015 G>A Mutation in the GAA Gene Manifesting as a Mild Infantile Variant of Pompe Disease in Jordanian Patients.

A wide spectrum of Pompe disease exists ranging from the infantile form to a milder juvenile or adult form. The clinical heterogeneity primarily relates to the occurrence of different mutations that lead to a different rate of lysosomal glycogen accumulation and non-genetic factors that are thought to modulate the disease phenotypes. To date, almost 300 distinct GAA mutations have been identifi ed.