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Introduction/Aims
Serum cardiac troponin I (cTnI), its relation to cardiomyopathy, and the contribution of the ACTN3 genotype to serum levels of cTnI in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) remain unknown. In this study we aimed to reveal the characteristics of cTnI, assess whether cTnI is a biomarker for cardiomyopathy in these dystrophinopathies, and evaluate the contribution...
Introduction/Aims
Corticosteroids have been shown to improve muscle strength and delay loss of ambulation (LOA) in Duchenne muscular dystrophy (DMD) and are considered standard of care despite significant side‐effects. The objective of this study is to evaluate whether corticosteroid treatment after LOA is beneficial for cardiac or pulmonary functions among boys with DMD.
Methods
We used the Muscular...
Introduction/Aims
Although the extent of muscle weakness and organ complications has not been well studied in patients with late‐onset myotonic dystrophy type 1 (DM1), adult‐onset DM1 is associated with severe muscle involvement and possible life‐threatening cardiac and respiratory complications. In this study we aimed to compare the clinical phenotype of adult‐onset vs late‐onset DM1, focusing on...