Article
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Orphanet journal of rare diseases - 10 Oct 2013
Sampaolo Simone, Esposito Teresa, Farina Olimpia, Formicola Daniela, Diodato Daria, Gianfrancesco Fernando, Cipullo Federica, Cremone Gaetana, Cirillo Mario, Del Viscovo Luca, Toscano Antonio, Angelini Corrado, Di Iorio Giuseppe
Abstract excerpt
BACKGROUND: Glycogenosis type II (GSDII or Pompe disease) is an autosomal recessive disease, often characterized by a progressive accumulation of glycogen within lysosomes caused by a deficiency of α-1,4-glucosidase (GAA; acid maltase), a key enzyme of the glycogen degradation pathway. To date, more than 326 different mutations in the GAA gene have been identified in patients with GSDII but the course of the...
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