“If we were thinking of a collection of the genome’s greatest hits, this would go on the list.”
–Dr. Francis Collins, Director of the National Institutes of Health, on the discovery of the FSHD genetic mechanism
Here are two excellent overviews of FSHD research:
- Facioscapulohumeral muscular dystrophy.
Wikipedia article maintained by the FSH Society Journal Club members.
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
Rabi Tawil, Silvère M van der Maarel and Stephen J Tapscott. In Skeletal Muscle. (Free Access.)
Visit our page on Genetic Cause of FSHD for a description of the genetic mechanism of FSHD Type 1 and FSHD Type 2.
There are many potential therapeutic pathways and targets for FSHD, as depicted in this schematic. (Modified from Himeda et al. “Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease” (2015) Antioxidants & Redox Signaling.)