An international research team co-led by a scientist at Fred
Hutchinson Cancer Research Center has identified two genetic factors behind the
third most common form of muscular dystrophy. The findings, published online in
Nature Genetics, represent the latest in the team’s series of groundbreaking
discoveries begun in 2010 regarding the genetic causes of facioscapulohumeral
muscular dystrophy, or FSHD.
The team, co-led by Stephen Tapscott, M.D., Ph.D., a member
of the Hutchinson Center’s Human Biology Division, discovered that a rare
variant of FSHD, called type 2, which accounts for about 5 percent of cases, is
caused by two genetic mutations that together cause the production of
muscle-damaging toxins responsible for causing symptoms of this progressive muscle
disease.
journal reference (abstract free): nature genetics >>