Muscular Dystrophy Gene Riddle Cracked, May Lead to Treatments - Bloomberg

A genetic flaw behind a common form of muscular dystrophy may be explained in research that suggests why some people with the variant gene are afflicted with the muscle-wasting disease.

While scientists have known for more than a decade that facioscapulohumeral muscular dystrophy, or FSHD, is linked to genetic abnormalities on the end of chromosome 4, not everyone with these changes gets the disease, said Daniel Miller, a genetics researcher at the University of Washington in Seattle. The findings show that strings of genetic code surrounding a critical gene can either disable it or allow it to be expressed and damage cells, Miller said.