Myotubular Myopathy and other Centronuclear Myopathies

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
Sponsor AIM
Study status Closed In preparation
Recruitment status Closed In preparation
Population Child and Adult Adult
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