Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease
Barbara Iadarola, Denise Lavezzari, Alessandra Modi, Chiara Degli Esposti, Cristina Beltrami, Marzia Rossato, Valentina Zaro, Ettore Napione, Leonardo Latella, Martina Lari, David Caramelli, Alessandro Salviati, Massimo Delledonne
The paper performs whole-exome sequencing on mummified remains to identify a genetic mutation associated with late-onset Pompe disease in a historical figure.
Scientific Reports · Oct 26, 2021Peer-reviewedGenetic & Genomic Medicine