Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated variants located in the GAA gene. In the present study,...

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Bibliographic Details
Main Authors: Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Molecular Therapy: Methods & Clinical Development
Subjects:
glycogen storage disease type II
Pompe disease
diagnostics
mosaicism
segmental uniparental isodisomy
Online Access:http://www.sciencedirect.com/science/article/pii/S2329050120300073

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http://www.sciencedirect.com/science/article/pii/S2329050120300073

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