Ontology highlight
ABSTRACT:
SUBMITTER: Filosto M
PROVIDER: S-EPMC3866903 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Filosto Massimiliano M Todeschini Alice A Cotelli Maria Sofia MS Vielmi Valentina V Rinaldi Fabrizio F Rota Silvia S Scarpelli Mauro M Padovani Alessandro A
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20131001 2
Glycogenosis II (GSD II) is an autosomal recessive lysosomal storage disorder resulting from acid alpha-glucosidase deficiency, subsequent accumulation of glycogen in tissues, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. The late-onset form is characterized by wide variability in residual enzyme activity, age of onset, rate of disease progression and phenotypical spectrum. Although the pathological process mainly affects the skeletal muscle, several ...[more]