OBJECTIVE: The purpose of this study was to assess skeletal muscle function and body composition in a group of women with Marfan syndrome compared with matched controls. METHODS: The 21 women who were receiving follow-up for Marfan syndrome at our institution, were free of major cardiovascular disease, and consented to the study performed isokinetic and isometric knee extension and flexion maximal strength tests and had their body composition evaluated using dual-energy X-ray absorptiometry (DEXA). The same assessments were done in 19 matched controls. RESULTS: A significant decrease in lean leg mass with no change in total soft-tissue leg mass was noted in the patients compared with the controls. Peak torque values for the quadriceps and hamstring muscle groups were decreased in the patients, but only quadriceps strength was significantly reduced after normalization for lean leg mass. CONCLUSION: The muscle strength reduction in Marfan patients was not fully explained by a decrease in lean leg mass, suggesting qualitative skeletal-muscle alterations related to abnormal fibrillin expression in muscle connective tissue.
OBJECTIVE: The purpose of this study was to assess skeletal muscle function and body composition in a group of women with Marfan syndrome compared with matched controls. METHODS: The 21 women who were receiving follow-up for Marfan syndrome at our institution, were free of major cardiovascular disease, and consented to the study performed isokinetic and isometric knee extension and flexion maximal strength tests and had their body composition evaluated using dual-energy X-ray absorptiometry (DEXA). The same assessments were done in 19 matched controls. RESULTS: A significant decrease in lean leg mass with no change in total soft-tissue leg mass was noted in the patients compared with the controls. Peak torque values for the quadriceps and hamstring muscle groups were decreased in the patients, but only quadriceps strength was significantly reduced after normalization for lean leg mass. CONCLUSION: The muscle strength reduction in Marfan patients was not fully explained by a decrease in lean leg mass, suggesting qualitative skeletal-muscle alterations related to abnormal fibrillin expression in muscle connective tissue.
Authors: Gaynor Miller; Monica Neilan; Ruth Chia; Nabeia Gheryani; Natalie Holt; Annabelle Charbit; Sara Wells; Valter Tucci; Zuzanne Lalanne; Paul Denny; Elizabeth M C Fisher; Michael Cheeseman; Graham N Askew; T Neil Dear Journal: PLoS One Date: 2010-02-09 Impact factor: 3.240
Authors: Hongqing Du; Melissa S Cline; Robert J Osborne; Daniel L Tuttle; Tyson A Clark; John Paul Donohue; Megan P Hall; Lily Shiue; Maurice S Swanson; Charles A Thornton; Manuel Ares Journal: Nat Struct Mol Biol Date: 2010-01-24 Impact factor: 15.369
Authors: Emanuele Cartella; Simona De Salvo; Katia Micchìa; Laura Romeo; Anna Lisa Logiudice; Placido Bramanti; Silvia Marino Journal: J Int Med Res Date: 2020-12 Impact factor: 1.671