Genetic polymorphisms influencing muscle structure and metabolism may affect the phenotype of metabolic myopathies. We here analyze the possible influence of a wide panel of "exercise genes" on the severity and progression of respiratory dysfunction in LOPD. We stratified patients with comparable age and disease duration according to the severity of their respiratory phenotype, assessed by both upright FVC% and postural drop in FVC%.

Polymorphism in exercise genes and respiratory function in Late Onset Pompe Disease (LOPD)

Tonin, Paola;
2021

Abstract

Genetic polymorphisms influencing muscle structure and metabolism may affect the phenotype of metabolic myopathies. We here analyze the possible influence of a wide panel of "exercise genes" on the severity and progression of respiratory dysfunction in LOPD. We stratified patients with comparable age and disease duration according to the severity of their respiratory phenotype, assessed by both upright FVC% and postural drop in FVC%.
FVC postural drop
Pompe Disease
genetic polymoprphisms
modifier genes
respiratory function
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/1053222
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