Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction

Glycogen storage disease II or Pompe disease (PD), is a rare autosomal recessive disorder due to biallelic pathogenic variants in GAA, resulting in the enzymatic deficiency of alpha-1,4-glucosidase. Two clinical forms are recognized, namely, early onset (EOPD) and late-onset (LOPD). We present the c...

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Bibliografiske detaljer

Principais autores:	Monica Sciacco, Sabrina Lucchiari, Letizia Bertolasi, Giacomo Pietro Comi, Stefania Corti, Dario Ronchi
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2025-06-01
Serier:	Frontiers in Genetics
Fag:	Pompe disease GAA muscle glycogenosis IVS1-32-13T>G acid maltase deficiency
Online adgang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1574381/full
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