Facioscapulohumeral muscular dystrophy

Autor: Maarel, Silvère M. van der, Miller, Daniel G., Tawil, Rabi, Filippova, Galina N., Tapscott, Stephen J.
Zdroj: Current Opinion in Neurology; October 2012, Vol. 25 Issue: 5 p614-620, 7p
Abstrakt: In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to discuss the observations supporting the possibility of a developmental defect in this disorder.
Databáze: Supplemental Index