Centronuclear myopathies are characterized by an unusual localization of nuclei at the center of muscle fibers. Myotubular myopathy is a recessive X-linked form of centronuclear myopathy. Rare and severe genetic diseases of skeletal muscle, these myopathies cause generalized hypotonia and muscle weakness from birth or the first months.
- NatHis-CNM: Prospective, Longitudinal Study of the Natural History and functional status of patients with MyoTubular Myopathy and other centronuclear myopathies
- NH-CNM-001: A prospective, longitudinal study of the natural history and functional status of patients with centronuclear myopathies
Acronyme |
NatHis-CNM |
NH-CNM-001 |
| Principal investigator | Andreea Seferian | Anthony Behin |
| Sponsor | AIM | |
| Study status | Closed | In preparation |
| Recruitment status | Closed | In preparation |
| Population | Child and Adult | Adult |
| + infos on clinicaltrials.gov |
