MEANS AND METHODS FOR TREATING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD).

摘要

Title: Means and methods for treating facioscapulohumeral muscular dystrophy (FSHD). The invention is related to facioscapulohumeral muscular dystrophy (FSHD) and in particular therapeutic means and methods for the treatment of the disease. In one aspect the invention provides a composition for use in the treatment of a subject that has FSHD which composition comprises a therapeutically effective amount of a substance which increases the level and/or activity of a protein encoded by a structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene in cells of the subject. The invention also provides means and methods for typing FSHD.