An 11½-minute interview with researcher Stephen Tapscott explores recent findings about the molecular basis of facioscapulohumeral MD

posted on February 2, 2012 - 4:55pm
A protein called DUX4, inappropriately produced ("expressed") in skeletal muscle fibers, is emerging as a major factor in facioscapulohumeral muscular dystrophy (FSHD). In FSHD-affected muscles, full-length DUX4 protein disrupts numerous biochemical pathways that normally would help muscle cells survive, mature and develop specialized roles.
posted on March 1, 2003 - 1:02pm
The trouble started for Claire Walker when she was in kindergarten, when her physical education teacher noticed that she couldn't do sit-ups like the other children and that her back seemed "lopsided." Claire's parents took her from their home in Louisiana to see Yadollah Harati, an MDA-affiliated neuromuscular disease specialist at Baylor College of Medicine in Houston. There, she learned she...