Myotubular and Centronuclear Myopathy Patient Registry

Myotubular myopathy (MTM) and centronuclear myopathy (CNM) are rare inherited muscle diseases that cause profound muscle weakness, often requiring breathing support and affecting life expectancy from birth or childhood. This study is establishing a patient registry — a database of individuals with these conditions — to collect medical histories and track outcomes over time. The registry will help researchers understand the natural course of these diseases and support future clinical trial design. The registry is open to anyone with a confirmed diagnosis of myotubular myopathy or centronuclear myopathy, confirmed by genetic testing or muscle biopsy. It also accepts records for people who have since passed away but had a confirmed diagnosis. There are no exclusion criteria — anyone with a confirmed diagnosis is eligible regardless of age, sex, or severity. You may be eligible if: - You (or your child or deceased family member) have a confirmed diagnosis of myotubular myopathy or centronuclear myopathy - Diagnosis is confirmed by genetic testing or muscle biopsy - Female carriers of X-linked MTM are also eligible, especially if they have symptoms You may NOT be eligible if: - Your diagnosis has not been confirmed by genetic testing or muscle biopsy Talk to your doctor to see if this trial is right for you.