Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

ABSTRACT:

Background and objective

Dysferlinopathies are a group of muscle disorders 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.

Methods

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.

Results

I

SUBMITTER: Diaz-Manera J 

PROVIDER: S-EPMC6166612 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature