Here is a list of many research opportunities for you to get involved in. Participation in some can even be done from the comfort of your home.
1. Register with the CMDIR.
2. Enroll at the Beggs lab at Boston Children's Hospital/Harvard.
3. Joshua Frase Foundation International Patient Registry using geotagging - Where are you on the map? Register here.
Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). Some people with XLMTM have been diagnosed clinically but have not had genetic testing. Others have had genetic testing of the MTM1 gene but no change in the DNA was found. The purpose of this study is to provide genetic testing to those children and adults who have symptoms of XLMTM and a muscle biopsy that confirms a centronuclear myopathy who have either not had genetic testing or have had genetic testing that came back negative. Getting a genetic diagnosis is important to participate in future clinical trials.
7. MTM1 Carrier Survey click here.