Article
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
International journal of molecular sciences - 31 Mar 2021
Napolitano Filomena, Bruno Giorgia, Terracciano Chiara, Franzese Giuseppina, Palomba Nicole Piera, Scotto di Carlo Federica, Signoriello Elisabetta, De Blasiis Paolo, Navarro Stefano, Gialluisi Alessandro, Melone Mariarosa Anna Beatrice, Sampaolo Simone, Esposito Teresa
Abstract excerpt
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 and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the...
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