News and press releases about the Joshua Frase Foundation and its efforts behind CNM/MTM

Tue, Jan 22, 2013

Enzyme Replacement Therapy Shows Promising Results in X-Linked Myotubular Myopathy

X-linked myotubular myopathy (XLMTM) is a severe muscle disease caused by an absence of a protein called myotubularin.  There is currently no treatment for this disorder, and most patients die in infancy or childhood.  The overall incidence of myotubular myopathy is 1 in 50,000 live male births.