Silvere Maria VAN DER MAAREL,Richard Joannes Leonardus Franciscus LEMMERS,Judit BALOG,Stephen Justice TAPSCOTT,Alrabi TAWIL
申请号：
US15578314
公开号：
US20180147256A1
申请日:
2016.06.02
申请国别(地区):
US
年份:
2018
代理人:
摘要：
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 has 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.
