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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.