Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

Sabrina Ravaglia; Alberto Malovini; Serena Cirio; Cesare Danesino; Paola De Filippi; Maurizio Moggio; Tiziana Mongini; Lorenzo Maggi; Andrea Vianello; António Toscano; Paola Tonin; Maria Antonietta Maioli; Rossella Parini; Massimiliano Filosto; Grazia Crescimanno; Sebastiano Arceri; Manuela Piran; Annalisa Carlucci

doi:10.1152/japplphysiol.00154.2020

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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.

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Ravaglia et al. (2021) studied this question.

synapsesocial.com/papers/6aa94279f8b27f8ac662f27b https://doi.org/10.1152/japplphysiol.00154.2020

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Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

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Polymorphism in exercise genes and respiratory function in late-onset Pompe disease

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