The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust and Muscular Dystrophy UK.~Participants register online and must provide consent before accessing the registry questionnaire. The clinical data and genetic or biopsy reports are provided by the participants and their doctors.~The MTM & CNM Registry aims to:~Help identify patients for relevant clinical trials as they become available.~Encourage further research into myotubular and centronuclear myopathy.~Provide researchers with specific patient information to support their research.~Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients.~The investigators welcome the registration of:~All patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.~Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.~Any patient who is deceased, but who had a confirmed diagnosis.~This is an online registry and is hosted on the RDRF (Rare Disease Registry Framework) by Murdoch University.~More details and online registration are available at www.mtmcnmregistry.org.
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.~More details and online registration are available at www.mtmcnmregistry.org.