Collagen VI myopathies

Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathies also share common features with other disorders associated with prominent muscle contractures, making differential diagnosis difficult.

Clinical trials ongoing at the Institute:

•  Registre COL6: Phenotypic and molecular characterization of a cohort of patients with myopathy related to the Col6 gene (retrospective study)
• Col6-RD: Collagen-6 related dystrophies (COL6-RD) modifier study.Identification of genetic modifiers that determine severity of COL6 myopathy (ICF)