Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed...

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Detalles Bibliográficos
Autores principales: De Filippi, Paola, Errichiello, Edoardo, Toscano, Antonio, Mongini, Tiziana, Moggio, Maurizio, Ravaglia, Sabrina, Filosto, Massimiliano, Servidei, Serenella, Musumeci, Olimpia, Giannini, Fabio, Piperno, Alberto, Siciliano, Gabriele, Ricci, Giulia, Di Muzio, Antonio, Rigoldi, Miriam, Tonin, Paola, Croce, Michele Giovanni, Pegoraro, Elena, Politano, Luisa, Maggi, Lorenzo, Telese, Roberta, Lerario, Alberto, Sancricca, Cristina, Vercelli, Liliana, Semplicini, Claudio, Pasanisi, Barbara, Bembi, Bruno, Dardis, Andrea, Palmieri, Ilaria, Cereda, Cristina, Valente, Enza Maria, Danesino, Cesare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136686/
https://www.ncbi.nlm.nih.gov/pubmed/37185710
http://dx.doi.org/10.3390/cimb45040186

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