Examining the relationship between Dixon quantitative MRI and physiotherapy functional outcome measures in dysferlinopathy

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We report on the relationship between Physiotherapy measures and Dixon quantitative MRI data over the first year of the 3-year international clinical outcome study of dysferlinopathy. Dysferlinopathy presents with a spectrum of muscle weakness including distal and proximal phenotypes and variable rate of progression. This variability presents challenges for developing clinical trial outcome measures. The Jain COS Consortium aims to overcome these challenges by collecting observational data from 203 genetically confirmed patients (aged 12–88) over 3 years.

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