DUX4 protein

MDA-supported researchers have developed a research mouse with the same molecular abnormalities that underlie human types 1 and 2 facioscapulohumeral muscular dystrophy

posted on April 4, 2013 - 2:00pm
A newly developed research mouse that has the same combination of genetic alterations that causes human facioscapulohumeral muscular dystrophy (FSHD) is expected to change the way research in this disease is conducted, possibly speeding the development of therapies. Unlike humans, mice normally do not have a DNA structure called a D4Z4 repeat array that, when altered, causes FSHD. Therefore, FSHD...

MDA-supported researchers have found that mutations in the SMCHD1 gene can lead to type 2 facioscapulohumeral MD, with implications for diagnosis and treatment

posted on November 12, 2012 - 5:00am
Update (Nov. 14, 2012): This story has been updated to reflect information about genetic testing.