Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity...

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Bibliographic Details
Main Authors: Filomena Napolitano, Giorgia Bruno, Chiara Terracciano, Giuseppina Franzese, Nicole Piera Palomba, Federica Scotto di Carlo, Elisabetta Signoriello, Paolo De Blasiis, Stefano Navarro, Alessandro Gialluisi, Mariarosa Anna Beatrice Melone, Simone Sampaolo, Teresa Esposito
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
late-onset form of Pompe disease
skeletal muscle biopsies
modifiers factors
genetic modifiers
autophagy genes
whole exome sequencing
Online Access:https://www.mdpi.com/1422-0067/22/7/3625

Internet

https://www.mdpi.com/1422-0067/22/7/3625

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