Dysferlinopathies are caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.Thisstudypresents cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. The pattern of muscles involved in the disease were analysed using hierarchical analysis and presented as heatmaps. Results of the MRI scans were correlated with relevant functional tests for each region of the body analysed. The gastrocnemius medialis and the soleus were the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment.
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