Participate in Research

Researchers are still searching for additional genes implicated in CNM / MTM that are not yet identified. The more researchers know about those with Centronuclear / Myotubular Myopathy the more progress they will make in finding a cure.

Patients and families can speed up the process by participating in the establishment of a patient database such as The Myotubular Trust Patient Registry or enrolling in research projects by asking their clinician / geneticist to send DNA to research laboratories. Large families with several affected family members are especially suited for this kind of research, but sporadic cases could be helpful too.

Those interested in taking part in a research project should contact:

• Dr Jocelyn Laporte in Strasbourg.
• Lindsay Swanson at the Beggs Laboratory, USA: Congenital Myopathy research programme involving over 1000 people with different congenital myopathies, including more than 200 with CNM / MTM.
• Kimberley Amburgey at the University of Michigan, USA: Currently running RYR1 genetic testing on a limited research
  basis.