Journal of neurology, neurosurgery, and psychiatry, Jan 7, 2018
Dysferlinopathies are a group of muscle disorders caused by mutations in the gene. Previous muscl... more Dysferlinopathies are a group of muscle disorders caused by mutations in the 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. We present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed. In 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the and the being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle p...
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Papers by Sheryl Foster