Reducing dynamin 2 protein levels benefited mice with a disorder mimicking human myobutular myopathy; the strategy could have implications for MTM and additional diseases
A French research team has found that reducing levels of a protein called dynamin 2 has potential as a strategy to treat myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), and that it could have implications for other nerve and muscle disorders as well.
A study to determine the usual disease course of myotubular myopathy has sites in North America and France
Update (May 20, 2014): This story has been updated to reflect additional information received May 20, 2014, from Michelle Nelken at Valerion Therapeutics, including the joint sponsorship of this study by Valerion and Genethon.
Researchers funded in part by MDA found that a single blood-vessel injection of myotubularin genes markedly improved muscle abnormalities and survival in mice and dogs
Update (Feb. 3, 2014): The video from the University of Washington has been edited, and the link has been updated to reflect this.
Update (Jan. 27, 2014): MDA also supported Alan Beggs at Harvard University on this study. We regret not including this information intially.
The National Institutes of Health is conducting a study to develop a questionnaire about motor function in young children who have a neuromuscular disorder
A privacy-protected registry and global map using geographic tagging of people with centronuclear/myotubular myopathy is being developed to speed research
A patient registry and world map of people with centronuclear myopathies (CNM), including myotubular myopathy (MTM), are being developed and are seeking participation from people with these disorders or their family members.
An MDA-supported research team has added mutations in titin, a gene for a protein involved in muscle contraction, to the known causes of centronuclear myopathy
Researchers in the United States and France, supported in part by MDA, have established that mutations in the titin gene are a cause of centronuclear myopathy (CNM), a group of muscle disorders characterized by variable degrees of weakness and cell nuclei that are abnormally located toward the center of muscle fibers rather than around the perimeter.
Researchers conducting a study of medical changes and complications in myotubular myopathy (MTM) are seeking individuals with MTM or their parents for 12 monthly phone interviews
The Myotubular Myopathy Event Study, a telephone-based survey, will gather information about MTM-associated events, such as emergency room visits, hospitalizations, medication reactions, and complications from medical procedures, as well as improved or declined motor and respiratory function.