New GAA Mutations ID’d as Cause of Late-onset Disease

New GAA Mutations ID’d as Cause of Late-onset Disease

298542

New GAA Mutations ID’d as Cause of Late-onset Disease

Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet Journal of Rare Diseases. Pompe disease is a genetic disorder characterized by impaired production or function of the acid alpha-glucosidase (GAA) enzyme. Without functional GAA, glycogen (a complex…

You must be logged in to read/download the full post.