• Media type: E-Article
  • Title: Polymorphism in exercise genes and respiratory function in late-onset Pompe disease
  • Contributor: Ravaglia, Sabrina; Malovini, Alberto; Cirio, Serena; Danesino, Cesare; De Filippi, Paola; Moggio, Maurizio; Mongini, Tiziana; Maggi, Lorenzo; Servidei, Serena; Vianello, Andrea; Toscano, Antonio; Tonin, Paola; Maioli, Maria Antonietta; Parini, Rossella; Filosto, Massimiliano; Crescimanno, Grazia; Arceri, Sebastiano; Piran, Manuela; Carlucci, Annalisa
  • imprint: American Physiological Society, 2021
  • Published in: Journal of Applied Physiology
  • Language: English
  • DOI: 10.1152/japplphysiol.00154.2020
  • ISSN: 8750-7587; 1522-1601
  • Keywords: Physiology (medical) ; Physiology
  • Origination:
  • Footnote:
  • Description: <jats:p> Previous reports evaluated the role of exercise genes in influencing skeletal muscle phenotype and response to ERT in LOPD. Here, we investigate the role of polymorphisms in several exercise gene, focusing on respiratory muscles. ACE-DD and ACTN3-XX polymorphisms, possibly influencing muscle properties and fiber composition, were associated with more severe respiratory phenotypes. </jats:p>
  • Access State: Open Access