System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

We hypothesized that the genes associated with proximal and distal muscular dystrophy (MD) onsets code proteins with distinct cellular functions. We collected the MD-associated genes and assigned them to three onset groups: genes mutated only in distal onset dystrophies, genes mutated only in proximal onset dystrophies, and genes mutated in both types of onsets. We then systematically evaluated the cellular functions of these gene sets with computational strategies based on functional enrichment analysis and biological network analysis.

The results were published in Scientific Reports. The code and the data shared here, along with resulting and supplementary files, are available on Zenodo.