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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Publicado en:Int J Mol Sci
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2021
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8036926/
https://ncbi.nlm.nih.gov/pubmed/33807278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22073625
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