Abstract
Objective: Ehlers–Danlos (EDS) syndrome and Marfan syndrome are heritable connective tissue disorder caused by mutations in genes encoding collagen, tenascin-X (TNX), and fibrillin-1. Primary muscle involvement in these disorders can be expected based on interactions between muscle and extracellular matrix (ECM), similarly as in collagen VI myopathies. We performed a clinical study on EDS and Marfan patients and investigated muscle function in a mice-model of EDS to investigate the role of the ECM on muscle function.
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