This website provides information on patients with mutations in the TRIP4 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TRIP4 gene is a multisystem disorder, termed ASC-1 related myopathy, characterized by early onset proximal and axial weakness, respiratory failure, variable cardiac involvement, scoliosis and skin involvement.

Not all individuals with a mutation in the TRIP4 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TRIP4 gene.

Ana Ferreiro, MD, PhD, Basic and translational Myology Lab, University of Paris, Paris, France, ana.b.ferreiro@gmail.com

Isabelle Duband-Goulet, PhD, Basic and translational Myology Lab, University of Paris, Paris, France, isabelle.duband-goulet@univ-paris-diderot.fr

Rocío Nur Villar Quiles, MD, Basic and translational Myology Lab, University of Paris; Neuromuscular Unit, Pitié-Salpetrière Hospital, Paris, France, rocionur@gmail.com