Myotubular and Centronuclear Myopathy Patient Registry
Ophthalmology / Posted 2 years ago
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.
Inclusion Criteria :
- 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.
- Exclusion Criteria : None
- Study end date : 01/12/2022
- Wales-Based Study Contact : Please speak to your clinician
- Principal Investigator : Chiara Marini Bettolo