University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics. About 50% of congenital myopathy cases currently do not have a known genetic basis, presenting a clear barrier to understanding disease and developing therapy, says James Dowling, M.D., Ph.D., the paper’s co-senior author and assistant professor of Pediatric Neurology at the University of Michigan’s C.S. Mott Children’s Hospital. Finding a new myopathy gene opens the possibility of providing a genetic explanation for disease in these individuals where no genetic cause is currently known.
View the original article here: New gene mutation associated with Congenital Myopathy
