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

  • 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
Contact details

Newcastle University Newcastle Upon Tyne, Tyne And Wear, United Kingdom, NE1 3BZ  Show Phone Number

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