Congenital myopathies 2

Myotubular myopathy (MTM) is a devastating childhood muscle disease associated with severe disabilities and early death. Maani et al (2018)., recently identified tamoxifen as a novel therapeutic candidate for MTM that improves muscle structure, strength and prolongs survival in MTM mice through modulation of dynamin-2 (DNM2), a known disease modifier. As clinical trials for tamoxifen in MTM are imminent, there remains a need for a reliable, non-invasive biomarker to reflect disease severity and treatment response, facilitating disease monitoring and testing of novel therapies.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: N. Maani, N. Sabha, D. Gustafson, A. Ramani, J. Fish, M. Alexander, J. Dowling Source Type: research