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
|Principal investigator||Andreea Seferian||Anthony Behin|
|Study status||Ongoing||In preparation|
|Recruitment status||Closed||In preparation|
|Population||Child and Adult||Adult|
|+ infos on clinicaltrials.gov|