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Displaying 3 studies
The purpose of this study is to determine if disorders such as immune-mediated myopathies and myotonic dystrophy can affect the mechanical properties of muscle which can be detected using ultrasound-based methods.
The purpose of this study is to test for a clinical and genetic association between Myotonic Dystrophy Type 1 (DM1) and Fuchs endothelial corneal dystrophy (FECD).
To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.