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Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort
Introduction The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles. Pompe disease (PD) is a treatable lysosomal storage disorder with overlapping clinical […]