Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Background: Late onset Pompe disease (LOPD) is rare and generally manifests predominantly as progressive limb girdle muscle weakness. It is linked to the pathogenic mutations in GAA gene, which leads to glycogen accumulation in various tissues.

Materials And Methods: We describe the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD.